This document discusses various aspects of assessing the cardiovascular system. It defines tachycardia, pathological tachycardia, pulse deficit, rhythm, sinus arrhythmia and its mechanism. It also describes irregular pulses, volume of pulse, pulsus alternans, paradoxus, parvus and bigemini. Character of pulse including pulsustardus, bisferiens, dicrotic and jerky are explained. Other assessments covered include radiofemoral delay, vessel wall thickness, blood pressure measurement techniques, normal ranges, respiratory assessment including rate, rhythm, type and temperature measurement.

9. Tachycardia
• Exercise
• Anxiety

10. Pathological tachycardia
• Shock
• High out put states  Fever , anemia ,
hyperthyroidism , beriberi
• Tachy arrythmias  SVT
• Drugs  Thyroxine , nifedipine , atropine ,
catacholamines like adrenaline

11. Pulse deficit
• PR and HR are counted simultaneously for 1
minute
• In AF and ectopics

12. Rhythm
• It is the regularity with which one beat follows
other
• Assessed by palpating radial artery
• MC cause in child is sinus arrythmia 
acceleration during inspiration and
deceleration during expiration

13. Sinus arrhythmia
• Increase in PR with inspiration and decrease in
PR during expiration
• Common in childresn ,athletes
• Sinus arrhythmia may be absent inCCF and
autonomic nueropathy

14. • Respiratory sinus arrhythmia (RSA) is a
naturally occurring variation in heart rate that
occurs during a breathing cycle. RSA is also a
measure of parasympathetic nervous system
activity

15. Mechanism of Sinus arrhythmia
• Primarily due to fluctuations in
parasympathetic output to heart
• Inspiration  stretch receptors in lungs 
vagus  inhibits the Cardio inhibitory area in
the medulla
• The tonic vagal discharge that keeps the heart
rate slow decreases and HR increases

16. Regularly irregular
• Ventricular bigemini/pulsus bigemini bi -2,
gemini – twins , digitalis toxicity
• Ectopic beat occuring so frequently that there
is one ectopy after each sinus beat
• Alternating strong(sinus) and weak (ectopic)
pulse with compensatory pause
• Other causes  ectopics/extrasystoles , 2nd
degree heart block /any atrial arrhythmia with
fixed block

17. Irregularly irregular
• AF
• Any atrial arrhythmia with varying AV nodal
conduction

18. Volume of pulse
Pulsus alternans
Pulsus paradoxus
Pulsus parvus
Pulsus bigemini *

19. Volume of pulse
• It is the amplitude of movement of arterial
wall against the palpating fingers
• It is the degree of movement of arterial wall
against the palpating fingers
• It depends on stroke volume of the LV and
distensibility of the vessel wall
• It depends on Pulse pressure

20. High volume pulse
• Bounding pulse
• Anxiety
• After exercise
• Fever
• Anaemia
• Hyperthyroidism
• AV fistula
• Higher SBP +/_ lower DBP

21. • PDA
• AR
• Early septic shock  warm shock  due to
peripheral Vasodilatation ( here there is fall in
Diastolic BP and hence wider PP )
• Status asthmaticus  as CO2 retenstion  VD
 wide PP bounding

22. Low volume (Pulsus Parvus )
• Parvus = small
• When PP is narrow
• CCF
• Shock
• Severe AS
• Coarctation of aorta
• Severe MS

23. Difference in Pulse volume
• Coarctation of aorta  if distal to subclavian
artery  volume will be different between
upper and lower limbs
• If proximal to Left subclavian artery 
diminished Left upper limb pulse

24. Pulsus alternans
• Alternate volume of pulse beats
• Method  By light palpation of the femoral
artery , with breath held in mid expiration(to
avoid respiratory variation )
• It is exaggerated by standing up (by reducing
the venous return )

25. • Can be detected by taking BP
• Korotkoff’s sound doubles as the pressure falls
• It is a rare but valuable sign of advanced LVF
• It is due to varying force of LV contraction

26. Pulsus Paradoxus
• Normally SBP falls during inpiration around 3 –
10 mm Hg
• PP is present when SBP falls by more than 10
mm Hg quiet inspiration
• Using BP apparatus
• Korotkoff’s sounds during inspiration and
expiration
• When difference become >20 it will be
palpable

27. Causes
• Acute severe asthma
• Cardiac tamponade
• Chronic constrictive pericarditis
• Hypovolemic shock
• Pulmonary embolism
• RV Infarction
• SVC obstruction
• COPD

28. Reversed Pulsus paradoxus
• Increased BP during inspiration
• HOCM

29. Water hammer pulse
• Collapsing / Corrigan’s pulse
• AR
• PDA

30. • Patient’s forearm is gripped using examiner’s
left palm with sufficient pressure so that the
pulse is just palpable
• Arm is lifted using examiner’s right hand
• When a thud will be felt if the pulse is water
hammer

31. it is toy of sealed
glass tube
containing water
and vacuum
On inversion water
drops through
vacuum to give a
thud

32. Character of pulse
Pulsus tardus /anacrotic pulse
Pulsus bisferiens
Dicrotic pulse
Jerky pulse
Catacrotic pulse

33. • It describes the pulse wave form
• Best assessed over carotids
• Because it is closest to the heart
• Wave form is not dampened by multiple
branching
• Pulse wave if faster(5m/s) than actual
movement of blood along the arterial tree(50
cm / sec)

34. Normal character
• Will have 2 positive waves in systole
1. Percussion wave due to rapid upstroke
2. Tidal wave –due to reflected waves from aortic
bifurcation
3. The end of systole is indicated by a sharp notch
 dicrotic notch
4. Which is followed by a positive wave  Dicrotic
wave
• Dicrotic notch correponds to closure of Aortic
valve

37. Pulsus tardus
• Tardus  slow
• Slow rising pulse
• AS
because LV takes a much longer time to push
the blood through the stenosed valve

39. Pulsus bisferiens
• Double peak pulse
• HOCM/ severe AR / AS + AR
• Two peaks both in systole

41. Dicrotic pulse
• Here also 2 peaks
• One in systole and other in diastole
• Sepsis
• Cardiomyopathy
• Myocarditis

42. Jerky pulse
• Initial high volume from the left V
• Severe MR
• HOCM  sudden cut off of forward flow by
hypertrophied septum

43. Radio femoral delay
• Normal lag is 5 ms
• More in coarctation of aorta  femoral pulse
is felt a little later than brachial (0.08 sec)

44. Vessel wall thickness
• Using three finger method

45. Blood Pressure
• It is the lateral thrust exerted by the blood
column into the vessel which contains it
• Five phases

46. • Phase 1  low intensity tapping sounds
• Phase 2  murmur like sound
• Phase 3  higher intensity tapping sound
• Phase 4  Muffling sound
• Phase 5 total disappearance of sound

47. • When sounds not audible  open and close
the fist
• LL BP  prone position
• SBP >10
• DBP same
• Postural hypotension
• Flush method ???

48. BP cuff size
• The length of the inflatable bladder should
encircle the arm without over lapping
• The width of the bladder should cover atleast
2/3rd of the length of arm
• Small cuff “super” BP

49. Recommended bladder size
• Newborns  3 cm
• Infants  5 cm
• Child  7 cm
• Adult  12.5 cm
• The inflatable bag of the cuff is to be 20%
wider than the diameter of the limb on which
it is used

50. Normal BP
• Newborn  90
• Infants  100
• Preschool  110
• School age  110+2mm for each year above 6
years (till 120)
• Hypertension  >95th centile
• High BP  between 90 – 95th centile
• Normal  90th centile

51. Hypotension
• Less than the 5th percentile of normal age
• <60 mm Hg in term neonates
• <70 mm Hg in infants
• <70 + 2x mm of Hg (up to 10 years )
• <90 mm Hg in children more than 10 years

52. Respiration
• Inspiration is an active process by the
diaphragm and intercostals
• Expiration is a passive process by the elastic
recoiling of lungs
• Accessory muscles of inspiration  scaleni
,Pectoralis , trapezius
• Accessory muscles of expiration  Abdominal
muscles and latissimus

53. Assess
• Rate
• Rhythm
• Type of respiration

54. Rate

55. Tachypnoea
• Pneumonia
• Pulmonary edema
• ARDS
• PTE

56. Bradypnoea
• Raised ICT
• Narcotic poisoning
• Hypothyroidism

57. Hyperpnoea
• Increase in depth of breathing proportionate
to metabolic demands
• Metabolic acidosis
• Renal failure

58. Hyperventilation
• Increase in depth of breathing
disproportionate to metabolic demands
• Brainstem lesions
• Hysteria

59. Rhythm
• Cheyne Stoke’s Breathing
• Biots Breathing
• Apneustic breathing
• Ataxic breathing
• Cogwheel breathing

60. Cheyne stokes breathing
• Periodic breathing in which periods of apnoea
alternate regularly with periods of
hyperpnoea
• Severe LVF
• Raised ICT
• Narcotic drug poisoning
• Renal failure

61. Biots breathing
• Apnoea between several shallow or few deep
respirations
• Seen in meningitis

62. Apneustic breathing
• Pause in full inspiration followed by another
pause in expiration lasting for 2-3 seconds
• Seen in pontine lesions

63. Ataxic breathing
• Deep and shallow breaths occur randomly
• Medullary lesions

64. Cogwheel breathing
• Interrupted breathing pattern seen in anxious
individuals

65. Type
• Physiological
1. Thoracoabdominal  females
2. Abdominothoracic  males
• Pathological
1. Thoracic  Diaphragmatic paralysis ,
peritonitis
2. Abdominal  Pleurisy , COPD

66. Temperature
• Normal  36.8 +/- 0.4 degree C
• 98.2 +/- 0.7 degree F
• Rectal > Oral > Axillary by 0.5 degree C
• Normal Diurnal variation is 1 degree F

67. • If placed under tongue  1 min
• If placed under axilla  3 min
• Axilla need to be dry
• Rectal temperature is needed only in rare
cases  sever PEM  rectal thermometer
with a rounded bulb

68. Patterns
• Continuous
• Remittent
• Intermittent
• Relapsing fever

69. Continous fever
• Daily fluctuation do not exceed 1 degree C

70. Remittent
• Exceed above normal but never touches
normal
• Step ladder  typhoid

71. Intermittent
• Quotidian  if it occurs daily ( JRA)
• Tertian  alternate days 
P.falciparum/ovale/vivax
• Quartan fever  every 3rd day  plasmodium
malaria
• Elevated temperature touches the base line

72. Relapsing fever
• Febrile episodes are seperated by afebrile
episodes of more than one day
• Eg quartan
• Pel ebstein fever  HL
• Fall by crisis  pneumococcal pneumonia
• Fall gradually  lysis typhoid

73. • With each degree rise in F , PR rises by 10 and
RR by 4
• Fever with relative bradycardia  Typhoid
fever , also meningitis (raised ICT )
• Viral fever (myocardial involvement )

74. Hyperpyrexia
• Temperature above 41 degree C
1. Heat stroke
2. Pontine haemorrhage
3. Malaria
4. Septicemia / Meningitis
5. Malingnant hyperthermia  that may occur
in myopathy patients when halothane
anaesthetic is used

75. Pallor
• Lower palpebral conjunctiva
• Tongue
• Oral mucosa
• Hard palate
• Nail beds
• Palm
• Sole

76. • Pallor / paleness, is waxy appearance of skin
and mucous membrane
• It depends on thickness of the skin and
quantity and quality of blood in capillaries
• Thus pallor and anemia are not interchangable
words

77. Icterus
• Examine in good sunlight
• Upper sclera
• Under aspect of tongue
• Palms
• Nails
• Skin

78. • It is the yellowish discolouration of skin and
mucous membrane due to excess amount of
Brn in blood
• Normal 0.3 – 1 mg%
• Clinical jaundice when s.brn crosses 3mg%

79. • Why upper border of bulbar conjunctiva??
• Sclera contains lot of elastin
• Brn has strong affinity for elastic tissue
• A white background is formed by sclera

80. d/d for jaundice
• Carotenemia  skin will be yellow , sclera and
mucous membrane are unaffected
• Diffuse xanthamatosis
• Muddy sclera
• Atabrine toxicity

81. Cyanosis
• It is defined as bluish discolouration of skin
and mucous membrane due to the presence
of increased amount of reduced haemoglobin
• >5g%
• Kyanos  dark blue colour
• Osis  condition

82. Sites
• Tongue
• Lips
• Ear lobes
• Tip of nose
• Nail beds
• Tips of fingers
• Toes

83. Types
• Central cyanosis
• Peripheral cyanosis
• Differential cyanosis
• Enterogenous cyanosis
• Mixed cyanosis

84. Peripheral cyanosis
• Arterial PaO2 is normal
• Oxygen unsaturation at the venous end of
capillary
• Reduced cardiac output
• Peripheral vasoconstriction
• Slow speed of circulation in the peripheries

85. Causes
• Exposure to cold air/water
• CCF
• Frost bite
• Raynaud’s phenomenon
• Shock / Peripheral circulatory failure due to
any cause
• Venous obstruction – produces local cyanosis (
eg SVC syndrome )

86. • Hyperviscosity syndorome  Multiple
myeloma , Polycythemia , macroglobinemia
• Mitral stenosis  lips , tip of nose and cheeks
may be cyanosed in mitral facies
• Septicemia (especially Gram neg organism)

87. Sites for peripheral C
• Tip of nose
• Ear lobule
• Outer aspect of lips , chin and cheek
• Tips of fingers and toes
• Nail bed of fingers and toes
• Palms and soles

88. • Tongue remains unaffected in peripheral
cyanosis
• Mechanism of peripheral cyanosis  stagnant
hypoxia , over utilisation hypoxia

89. Central cyanosis
• Arterial PaO2 is reduced
• Due to imperfect oxygenation of blood
• Oxygen saturation will go below 80 – 85%

90. Sites
• Tongue  mainly margins as well as
undersurface
• Inner aspect of lips
• Mucous membrane of gum , palate and cheek
• Plus Peripheral areas
• Mechanism  hypoxic hypoxia

91. Causes of central cyanosis
• Cyanotic congenital heart disease
• Eisenmenger’s syndrome
• Acute severe Asthma
• Respiratory failure , Respiratory depression
• Tension pneumothorax
• Acute laryngeal edema
• Acute pulmonary thromboembolism

92. • High altitude ???

93. Enterogenous / Pigment cyanosis
• Cyanosis due to excessive meth Hb or sulph Hb in
blood
• Causes
1. Hereditary Hb M disease
2. Posioning by anilline dyes
3. Drugs like nitrates , nitrites , phenacetin ,
sulphonamides , dapsone ,
4. Carboxy haemoglobinemia
• Diagnosis can be confirmed by spectroscopic
examination of blood

94. d/d of bluish discolouration of body
• Cyanosis
• Carbon monoxide poisoning  cherry red
flush
• Argyria  silver poisoning
• Osteogenesis imperfecta
• Drugs like Amiodarone produces bluish hue in
the skin ( ceruloderma)

95. Mixed cyanosis
• CCF due to left sided heart failure
• Acute MI with Acute LVF
• Rarely polycythemia

96. Differential cyanosis
• Hand red and feet blue  PDA with
Eisenmenger’s syndrome
• VV Coarctaion of aorta , transposition of
great vessels

97. Orthocyanosis
• It is the development of cyanosis only ion the
upright position due o hypoxia occuring in
erect posture as a result of associated
pulmonary AV malformations

98. Clubbing
• Defined as the bulbous enlargement of the
distal segments of fingers and toes due to the
proliferation of soft tissue especially on their
dorsal surface

99. Grades of clubbing
• Grade 1  Fluctuation of nail bed
• Grade 2 Obliteration of nail– nail fold angle
• Grade 3 Drum stick or parrot beak
appearance
• Grade 4  Hypertrophic Pulmonary
Osteoarthropathy

100. Methods of eliciting
• Lovibond’s angle  the non dominent finger
is inspected from the side
• Normal angle  172+/- 8
• Clubbing angle > 180

101. • Digital index method Dermographic method
• Dital phalangeal distance/Interphalangeal
distance
• Most sensitive measure of clubbing
• Forefinger of the non dominant hand is used
• Outline of the finger is drawn
• Transverse distance at the level of Distal Inter
phalangeal joint (IPD) & at the base of the nail
(DPD) is measured

102. • DPD/IPD
• Normal ratio < 0.825
• Clubbing when ratio exceeds 1
• Ratio of all the ten fingers added together if
exceeding 10 is very suggestive

103. Schamroth sign
• The tip and distal phalanx of both the thumb
when approximated enclose a rhomboid
space normally
• In clubbing this space is obliterated

104. Ungusometer
• Instrument for measuring clubbing

105. HPOA
• Triad of Clubbing , Joint pain and sub
periosteal new bone formation
• Technetium Bone Scintigraphy is the best
method of assessing HPOA
• Causes  SCC, Benign Mesothelioma ,
suppurative lung disease

106. Theories of clubbing
• Neural  disease in lungs –vagu stimulation --
VD
• Humoral  substances produced by diseased
lungs gets deposited
• Toxic toxic substance gets deposited
• Shunt theory

107. Shunt theory of clubbing
• Normally Megakaryocytes are converted into
platelets in the lungs
• In lung pathology they bypass the lungs
(shunt) and gets deposited in the small AV
connections in the finger tips and produce
PDGF which causes fibroblast proliferation and
tissue fibrosis

108. Causes
• Cardiac  Cyanotic Heart disease , Infective
endocarditis , Eisenmenger syndrome
• Pulmonary  Bronchiectasis , Lung Abscess,
Empyema
• GIT  IBD, cirrhosis
• Hereditary clubbing  familial , usually not
present at birth , appears later
• Unidigital  local insults

109. Pseudo clubbing
• Hyperparathyroidism
• Leukemia
• Hansen’s disease

110. Painful clubbing
• Infective endocarditis
• Lung abscess
• Empyema

111. Differential clubbing
• PDA – Eisenmenger syndrome
• Aneurysm of descending aorta
• Infected arterial grafts

112. Unilateral clubbing
• Subclavian innominate artery aneurysm
• AV malformations
• Infected arterial graft
• Pancoast tumour

113. Lymphadenopathy
• Patient in sitting position cervical and axillary
nodes
• In supine position for abdominal and inguinal
nodes

114. Note
• Site
• Number
• Size
• Consistency
• Tenderness
• Mobility
• Matted / discrete
• Fixity to skin
• Condition of overlying skin
• Condition of area of drainage

115. Cervical nodes
• Stand behind the patient
• Keep the neck slightly flexed forward and
sideways toward the side of examination
• Palpate  submental , submandibular ,
preauricular , jugulodigastric , supraclavicular ,
deep cervical

116. • Scalene nodes  dipping the palpating finger
behind the clavicle through the clavicular
insertion of SCM from behind
Or
• Standing in front palpating the node behind
the clavicular head of SCM with thumb and
index finger

117. • Now stand in front to examine
• Posterior auricular and occipital nodes
• Epitrochlear  lift the arm , flex the elbow to
the right angle. Palpate the nodes with the flat
of the thumb of the opposite hand

118. Axillary nodes
• Pectoral group
• Brachial group
• Subscapular group
• Central group
• Apical group

119. Pectoral group
• Examined from front
• Situated just behind the Anterior axillary fold
• Patients’s arm is elevated and using the right
hand for the left side the fingers are insinuate
behind the pectoralis major

120. Brachial group
• Lie on the lateral wall of axilla in relation to the
axillary vein
• Left hand is used for left side
• This group is felt with the palm directed laterally
against the upper end of humerus

121. Subscapular group
• This lies on the posterior axillary fold
• Examined from behind
• Standing behind the patient the examiner
palpates the antero internal surface of the
posterior fold while with the other hand the
patient’s arm is semi lifted

122. Central group
• Group of left side is examined with right
• Patient’s arm is slightly abducted and pass the
extended fingers right upto the apex of axilla
directing the parm towards the lateral thoracic
wall
• Other hand in the shoulder to stabilise

123. Apical group
• Same as central but the fingers are pushed
further up

124. • Abdominal nodes can be looked for by deep
palpation of the abdomen
• Inguinal nodes  patient supine with thigh
flexed at 10 degree
• Palpate the horizontal and vertical group
• Popliteal nodes are palpated deep in the
popliteal fossa with knee flexed

125. • Widening of dullness in the upper
mediastinum on light percussion of chest may
indicate the presence of enlarged mediastinal
nodes
• As a general statement LN of more than 1 cm
is considered as relevent

126. Edema
• Patient supine / left lateral position
• Inspect the lower extrimities and pre sacral
areas
• Skin will be stretched and shiny and normal
wrinkles will be obliterated
• Apply gentle pressure with the flat of the
thumb 30 seconds over the bony area
• And look for pitting

127. Bony areas
• Shin of tibia
• Medial malleolus
• Sacrum

128. Head to Foot Examination

129. Look ….
• Head
• Eyes
• Ears
• Mouth
• Teeth
• Neck
• Chest
• Spine
• UL
• LL
• Abdomen
• Genetalia
• Skin

130. Head
• Microcephaly
• Macrocephaly
• Fontanels
• Shape
• Scalp Swellings
• Skin of scalp
• Hair of scalp
• Face

131. Microcephaly
• 2/3 SD below normal
• One SD = 2.5% of the expected
A. Primary Microcephaly
I. Asymptomatic
II. Symptomatic
B. Secondary Microcephaly

132. Primary Microcephaly
• Brain is small
• Because of genetic , chromosomal ,idiopathic,
familial reasons
• Brain inherently had very poor potential for
growth
• It can be asymptomatic – usually familial
/when followed up will be normal

133. • Primary Microcephaly with symptoms  like
seizures
• Includes genetic, chromosomal , or
dysmorphic syndromes and some cases of
microcephaly with Mendelian inheritance
• It can be AD/AR/X linked
• Features  receding forehead tapering off
towards the vertex and flat occiput– usually in
AR transmitted PSFMi.

134. Syndromes with P.S.mi.
• Downs syndrome
• Edward syndrome
• Rubinstein- Taybi

135. Rubinstein Taybi syndrome
• Rubinstein–Taybi syndrome (RTS), also known as
broad thumb- hallux syndrome or Rubinstein
syndrome, is a condition characterized by short
stature, moderate to severe learning difficulties,
distinctive facial features, and broad thumbs and first
toes. Other features of the disorder vary among
affected individuals. People with this condition have an
increased risk of developing noncancerous and
cancerous tumors, leukemia, and lymphoma. This
condition is sometimes inherited as an autosomal
dominant pattern and is uncommon, many times it
occurs as a de novo (not inherited) occurrence, it
occurs in an estimated 1 in 125,000-300,000 births.

136. Secondary Microcephaly
• Due to insults in brain that had normal
potential for growth
1. Intrauterine infections – CMV , Rubella ,
Toxoplasma
2. Intrauterine Toxins – Foetal Alcohol
syndrome , foetal hydantoin syndrome ,
maternal PKU

137. 3. Perinatal and Post natal insults to brain
Meningitis ,encephalitis , Intracranial
haemorrhage , HIE,
4. Craniostenosis –it is a primary disorder 
premature fusion of cranial sutures even
though brain is growing normally
skull may be odd shaped ,with palpable riging
of suture lines

138. • Microcephaly in Rett’s syndrome is supposed
to be acquired , the child grows normally till
about one year after which the arrest of brain
growth occurs
• See for other evidence of squint , cataract ,
Choreoretinitis

139. Rett’s syndrome
• Rett syndrome, originally termed as cerebroatrophic
hyperammonemia is a rare genetic postnatal neurological disorder
of the grey matterof the brainthat almost exclusively affects
females but has also been found in male patients. The clinical
features include small hands and feet and a deceleration of the rate
of head growth (including microcephaly in some). Repetitive
stereotyped hand movements, such as wringing and/or repeatedly
putting hands into the mouth, are also noted.People with Rett
syndrome are prone to gastrointestinal disorders and up to 80%
have seizures.They typically have no verbal skills, and about 50% of
individuals affected do not walk. Scoliosis, growth failure, and
constipation are very common and can be problematic.
• The signs of this disorder are most easily confused with those of
Angelman syndrome, cerebral palsy and autism. Rett syndrome
occurs in approximately 1:10,000 live female births in all
geographies, and across all races and ethnicities.

140. Macrocephaly
• 2 SD above normal
• Causes
1. Familial
2. Hydrocephalus(congenital /Acquired )
3. Achondroplasia (partly due to ventricular
dilatation and partly due to megalencephaly )
4. Cerebral gigantism / Sotos syndrome
5. Fragile X syndrome
6. Mucopolysaccharidosis

141. Achondroplasia
• Achondroplasia is a common cause of dwarfism. It occurs as a
sporadic mutation in approximately 80% of cases (associated with
advanced paternal age) or may be inherited as an autosomal
dominant genetic disorder.
• People with achondroplasia have short stature, with an average
adult height of 131 centimeters (52 inches) for males and 123
centimeters (48 inches) for females. Achondroplastic adults are
known to be as short as 62.8 cm (24.7 in). The disorder is caused by
a change in the gene for fibroblast growth factor receptor 3
(FGFR3), which causes an abnormality of cartilage formation. If
both parents of a child have achondroplasia, and both parents pass
on the mutant gene, then it is very unlikely that the homozygous
child will live past a few months of its life. The prevalence is
approximately 1 in 25,000.[1]

142. Sotos sydrome
• Sotos syndrome (cerebral gigantism) is a rare genetic disorder
characterized by excessive physical growth during the first 2 to 3
years of life. The disorder may be accompanied by autism, mild
mental retardation, delayed motor, cognitive, and social
development, hypotonia (low muscle tone), and speech
impairments. Children with Sotos syndrome tend to be large at
birth and are often taller, heavier, and have relatively large skulls
(macrocephaly) than is normal for their age. Signs of the disorder,
which vary among individuals, include a disproportionately large
skull with a slightly protrusive forehead, large hands and feet, large
mandible, hypertelorism (an abnormally increased distance
between the eyes)(large inter-pupillary distance), and downslanting
eyes. Clumsiness, an awkward gait, and unusual aggressiveness or
irritability may also occur. Although most cases of Sotos syndrome
occur sporadically, familial cases have also been reported. It is
similar to Weaver syndrome.

143. Fragile x syndrome
• Fragile X syndrome (FXS), also known as Martin–Bell
syndrome, or Escalante's syndrome (more commonly
used in South American countries), is a genetic
syndrome that is the most widespread single-gene
cause of autism and inherited cause of intellectual
disability especially among boys. It results in a
spectrum of intellectual disabilities ranging from mild
to severe as well as physical characteristics such as an
elongated face, large or protruding ears, and large
testes (macroorchidism), and behavioral characteristics
such as stereotypic movements (e.g. hand-flapping),
and social anxiety.

144. 7. Neurocutaneous syndromes like Tuberous
sclerosis , Neurofibromatosis
8. Certain white matter degenerative diseases –
Alexander and Canavan Disease
9. Macrocephaly due to thickening of widening
of skull - Rickets , Thalassemia
10. Pseudohydrocephalus  when compared
with dwarfed face and body  Russel silver
syndrome

145. Alexander ds
• Alexander disease, also known as fibrinoid leukodystrophy, is a slowly
progressing and fatal neurodegenerative disease. It is a very rare disorder
which results from a genetic mutation and mostly affects infants and
children, causing developmental delay and changes in physical
characteristics.
• Alexander disease is a genetic disorder affecting the central nervous
system (midbrain and cerebellum). It is caused by mutations in the gene
for glial fibrillary acidic protein (GFAP)that maps to chromosome 17q21. It
is inherited in an autosomal dominant manner, such that the child of a
parent with the disease has a 50/50 chance of inheriting the condition, if
the parent is heterozygotic. However, most cases arise de novo as the
result of sporadic mutations.
• Delays in development of some physical, psychological and behavioral
skills, progressive enlargement of the head (macrocephaly), seizures,
spasticity in some cases also hydrocephalus, idiopathic intracranial
hypertension (IIH), dementia.

146. Canavan’s ds
• Canavan disease, also called Canavan-Van Bogaert-
Bertrand disease is an
autosomalrecessivedegenerative disorder that causes
progressive damage to nerve cells in the brain, and is
one of the most common degenerative cerebral
diseases of infancy. It is caused by a deficiency of the
enzyme aminoacylase 2 deficiency, and is one of a
group of genetic diseases referred to as a
leukodystrophies. It is characterized by degeneration of
myelin in the phospholipid layer insulating the axon of
a neuron and is associated with a gene located on
human chromosome 17.

147. Russell silver syndrome
• Russell-Silver syndrome is a growth disorder characterized by slow growth before
and after birth. Babies with this condition have a low birth weight and often fail to
grow and gain weight at the expected rate (failure to thrive). Head growth is
normal, however, so the head may appear unusually large compared to the rest of
the body. Affected children are thin and have poor appetites, and some develop
low blood sugar (hypoglycemia) as a result of feeding difficulties. Adults with
Russell-Silver syndrome are short; the average height for affected males is about
151 centimeters (4 feet, 11 inches) and the average height for affected females is
about 140 centimeters (4 feet, 7 inches).
• Many children with Russell-Silver syndrome have a small, triangular face with
distinctive facial features including a prominent forehead, a narrow chin, a small
jaw, and down-turned corners of the mouth. Other features of this disorder can
include an unusual curving of the fifth finger (clinodactyly), asymmetric or uneven
growth of some parts of the body, and digestive system abnormalities. Russell-
Silver syndrome is also associated with an increased risk of delayed development
and learning disabilities.

148. Other associated findings
• Full fontanel
• Seperation of sutures
• Cracked pot sound (in older children with sutures closed)
• Brisk lower limb reflexes
• Papilloedema
• Spine – spina bifida tuft of hair
• Cranial bruit  Vein of Galen Malformation
• Always measure Parents head circumference
• Dysmorphism ( Mucopolysaccharidosis)
• Ask for blood transfusion history  hemolytic anemia ,
osteoporosis

149. Fontanales
• There are 6 fontanales
• Only 2 palpable
• AF – 2.5 *2.5 cm
• Can be 4 cm in the AP direction
• Size of AF “increases” after birth
• Normally slightly depressed from the surface

150. • PF is normally <1 cm , barely admits tip of
little finger
• PF closes by 2 months
• AF closes by 9 – 18 months
• Pulsation of AF is normal
• Significant depression  dehydration
• Bulging  normal pulsation also decreases

151. Delayed closure of AF
• Rickets
• Congenital hypothyroidism
• Malnutrition
• Osteogenesis imperfecta
• Achondroplasia
• Down’s syndrome
• Trisomies

152. • On Palpation suture lines are not easily
palpable after six months of age , but in
hydrocephalus they remain palpably
seperated

153. Small fontanel
• Craniosynostosis(look for ridging of suture
lines )
• Variation of normal

154. Sunken Fontanel
• Dehydration usually when 10% weight is lost

155. Bulging Fontanel
1.Raised ICT  Maningitis , SDH , IC bleed ,
ICSOL ,
As the ICT raises AF pulsation decrease and
ultimately vanish
Note that absent AF pulsation can be normal
but in that case it will not be bulging

156. • 2. Hydrocephalus  AF may be bulging and
non pulsatile or pulsation may reduce from
what was there previously
• Scalp veins appear prominent
3. Crying child
4. Benign Intracranial Hypertension

157. Benign Intracranial Hypertension
• Nalidixic acid
• Tetracycline
• Vitamin A Toxicity
• Infections like Exanthem Subitum

158. Cephalic Index
• Head width /Head length * 100
Cephalic index Interpretation
<76
DOLICHOCEPHALY
76 – 80.9
NORMAL
>/= 81
BRACHYCEPHALY

159. Asymmetry of shape of head
• Dolichocephaly/ Scaphocephaly
• Brachycephaly
• Plagiocephaly
• Trigonocephaly
• Turricephaly /Oxycephaly / Acrocephaly

160. Dolichocephaly /Scaphocephaly
• Increased AP diameter
• Here the sagittal suture closes early

161. Brachycephaly
• Premature fusion of coronal suture
• Transverse diameter is more
• Occiput may be flat as in Brachycephaly of
Down’s syndrome

162. Plagiocephaly
• Head shape is assymmetric due to premature
fusion of sutures unilaterally
• Eg:- Premature unilateral fusion of coronal or
lamdoid suture or both

163. Trigonocephaly
• Triangular Transverse plane often with Ocular
hypotelorism
• Prominent mid frontal ridging due to
premature fusion of metopic suture

164. Turricephaly
• Skull is high , narrow and tower shaped
• Head is tower shaped with short AP diameter ,
high forehead and flat occiput
• Due to premature fusion of many sutures (
usually 4 or more )
• It is found in Apert syndrome

165. Apert syndrome
• Apert syndrome is a form of acrocephalosyndactyly, a
congenital disorder characterized by malformations of the
skull, face, hands and feet. It is classified as a branchial arch
syndrome, affecting the first branchial (or pharyngeal) arch,
the precursor of the maxilla and mandible. Disturbances in
the development of the branchial arches in fetal
development create lasting and widespread effects.
• In 1906, Eugène Apert, a French physician, described nine
people sharing similar attributes and
characteristics.Linguistically, "acro" is Greek for "peak",
referring to the "peaked" head that is common in the
syndrome. "Cephalo", also from Greek, is a combining form
meaning "head". "Syndactyly" refers to webbing of fingers
and toes.

166. Scalp swelling
• Dermoid
• Histiocytosis
• Osteoma
• Organized cephalhematoma
• Secondary deposits
• Traumatic

167. Seborrhoeic dermatitis of scalp
• Yellow crusted plaques in scalp
• Cradle cap

168. Cephalhematoma
• Sub periosteal collection of blood
• Due to elevation of periosteum
• Does not cross the suture line s
• Reaches maximum size by 3rd day
• Usually the parietal bone is most commonly
affected
• When B/L it may be associated with skull #
• Disappears by 3-6 weeks /calcified /and then
remodels

169. Caput succedaneum
• Diffuse , soft , boggy , swelling of the scalp
• Seen at time of birth
• Crosses suture lines
• Disappears by 1- 2 days

170. Cranial bossing
• It is the prominence of central part of parietal
and frontal bones
• When frontal bone alone is involved it is called
frontal bossing

171. Causes
• Rounded prominence in the centre of the parietal
and frontal bones may be an early manifestation
of rickets
• Hydrocephalus
• Congenital syphilis
• Thalassaemia
• Cleidocranial dysostosis
• Hurler’s syndrome
• Achondroplasia

172. Hurler syndrome
• Hurler syndrome, also known as
mucopolysaccharidosis type I (MPS I), Hurler's
disease, also gargoylism, is a genetic disorder
that results in the buildup of glycosaminoglycans
(formerly known as mucopolysaccharides) due to
a deficiency of alpha-L iduronidase, an enzyme
responsible for the degradation of
mucopolysaccharides in lysosomes. Without this
enzyme, a buildup of heparan sulfate and
dermatan sulfate occurs in the body. Symptoms
appear during childhood and early death can
occur due to organ damage.

173. Head tilt / Torticollis
• Local painful conditions /sternomastoid
“tumour”
• Compensation of visual defect /strabismus
• Herniation of cerebellar tonsils
• Klippel Feil deformity
• Dystonic reaction to drugs
•

174. Klippel Feil syndrome
• Klippel – Feil syndrome is a rare disease, initially
reported in 1912 by Maurice Klippel and André
Feil from France , characterized by the congenital
fusion of any 2 of the 7 cervical vertebrae. The
syndrome occurs in a heterogeneous group of
patients unified only by the presence of a
congenital defect in the formation or
segmentation of the cervical spine. Klippel–Feil
syndrome can be identified by shortness of the
neck. Those with the syndrome have a very low
hairline and the ability of the neck to move is
limited.

175. Head tilt
• Both occiput and chin are
deviated to same side
Torticollis
• Occiput is tilted to one side
and chin is shifted to other
side

176. Scalp hair
• Colour and texture
• White hair  Albinism
• Malnutrition  sparse , straight , thin ,easily
pluckable , lack luster , grey or red shcked , or
alternatively depigmented and pigmented
called flag sign
• Flag sign  in kwashiorkor , where there is
alternating periods of abnormal and normal
nutrition

177. Hypopigmented hair
• SAM
• Albinism
• PKU

178. Hair in Microcephaly
• Frontal upsweep of hair
• “cow lick”
• May be seen

179. Alopecia
• Congenital ectodermal dysplasia
• Chemotherapy and radiation
• Localised area of hair loss  Alopecia aerata,
over scars, fungal infections , also
psychological (trichotillomania )

180. Hypertrichosis
• Cushing syndrome
• deLange syndrome
• Precocious puberty
• Drugs  minoxidil , dilantin , androgens
• Familial

181. Low hair line
• Extending below the spine of C4
• Turner’s sundrome
• Low hairline in front  Hypothyroidism
• Hair is coarse and sparse in hypothyroidism
• Low hairline in back  can be a feature of
short neck  Klippel Feil syndrome
• Excess projection of hair into the cheek is seen
in Treacher Collins syndrome

182. Treacher Collins syndrome
• Treacher Collins syndrome (TCS), also known as
Treacher Collins–Franceschetti syndrome, or
mandibulofacial dysostosis, is a rare autosomal
dominant congenital disorder characterized by
craniofacial deformities, such as absent
cheekbones. Treacher Collins syndrome is found
in about one in 50,000 births. The typical physical
features include downward-slanting eyes,
micrognathia (a small lower jaw), conductive
hearing loss, underdeveloped zygoma, drooping
part of the lateral lower eyelids, and malformed
or absent ears.

183. Sparse or absent hair
• Unhidrotic ectodermal dysplasia

184. Kinky hair
• Menkes Kinky hair syndrome

185. Menkes kinky hair syndrome
• Menkes disease (MNK), also called Menkes
syndrome, copper transport disease, steely hair
disease, kinky hair disease, or Menkes kinky hair
syndrome, is a disorder that affects copper levels
in the body] leading to copper deficiency. It is an
x-linked recessive disorder, and is therefore
considerably more common in males: females
require two defective alleles to develop the
disease.
• The disorder was originally described by John
Hans Menkes (1928–2008) et al. in 1962.

186. Craniotabes
• Thin, parchment like , soft , mushy areas of
skin that indents like ping pong ball
• Physiological upto 3 months
• Should be elicited away from the suture lines ,
as it may be normally elicitable near the
suture lines

187. Craniotabes
• Rickets
• Congenital syphilis
• Osteogenesis imperfecta
• Hydrocephalus

188. Face
• Myopathic facies
• Moon facies
• Puffy facies
• Coarse facies
• Mask like facies
• Triangular facies

189. Myopathic facies
• Long drawn and thin neck facies

190. Moon face
• Rounded face
• Normal in obese
• Cushing syndrome

191. Puffy face
• Oedema
• Nephrotic syndrome
• Hypothyroidism  bit puffy with dull
expression

192. Coarse facies
• Hypothyroidism
• Mucopolysacharidosis (Hurler’s)
• Gangliosidosis
• Sotos syndrome
• Williams syndrome

193. William’s syndrome
• Williams syndrome (WS), also known as Williams–Beuren
syndrome (WBS), is a rare neurodevelopmental disorder
characterized by: a distinctive, "elfin" facial appearance,
along with a low nasal bridge; an unusually cheerful
demeanor and ease with strangers; developmental delay
coupled with strong language skills; and cardiovascular
problems, such as supravalvular aortic stenosis and
transient hypercalcaemia.
• It is caused by a deletion of about 26 genes from the long
arm of chromosome 7 . The syndrome was first identified in
1961 by New Zealander J.C.P. Williams and has an
estimated prevalence of 1 in 7,500 to 1 in 20,000 births.

194. Mask like facies
• Face is expression less
• Wilson’s disease and other diseases affecting
EPS
• Tranquilizer overdose
• Mobius syndrome (neuroparalysis)
• Infantile botulsim (neuroparalysis)
• Depression
• Myotonic dystrophy

195. Mobius syndrome
• Möbius syndrome (also spelled Moebius) is an
extremely rare congenital neurological disorder which
is characterized by facial paralysis and the inability to
move the eyes from side to side. Most people with
Möbius syndrome are born with complete facial
paralysis and cannot close their eyes or form facial
expressions. Limb and chest wall abnormalities
sometimes occur with the syndrome. People with
Möbius syndrome have normal intelligence, although
their lack of facial expression is sometimes incorrectly
taken to be due to dullness or unfriendliness. It is
named for Paul Julius Möbius, a neurologist who first
described the syndrome in 1888

196. Triangular facies
• Variation of normal
• Russel silver syndrome
• Turner’s syndrome

197. Hemolytic facies
• Typically in Beta thalassemia
• Frontal bossing
• Depressed bridge of nose
• Maxillary prominence
• Prominent malar eminence
• Protruding malaligned teeth

198. Adenoid facies
• Protruding perioral area
• With partially open mouth
• No changes over maxilla or frontal bones

199. Absent DAOM
• Depressor anguli oris muscle
• Its congenital absence produces  assymetric
lowering of lower lip during crying
• Can be seen in normal children
• Has association with heart disease

200. Depressed nasal bridge
• Normal in certain races
• Down’s syndrome
• Congenital syphilis (called saddle nose)
• Late stage of leprosy

201. Short columella
• Short columella pulls down the nasal tip and
distorts the nose and gives flat appearance to
the nose

202. Hypoplasia of ala nasi
• Gives a pinched appearance and produces
beak nose

203. Broad nasal bridge
• Implies palpable widening of nasal bones

204. Epistaxis
• Trauma
• Rhinitis
• FB
• Polyps
• Diphtheria
• HTN
• Bleeding disorders

205. Micrognathia
• Pierre Robin syndrome
• Treacher collins syndrome
• Sequle of long standing juvenile RA
• Cri du chat syndrome
• Di George syndrome
• Foetal alcohol syndrome
• Rubinstein Taybi syndrome
• Russel silver syndrome

206. Prognathism
• Angelman syndrome
• Fragile X syndrome
• Acromegaly

207. Eyes
• Eye ball tension
• Palpate with index finger with eye closed
• Increased in glaucoma
• And reduced in dehydration

208. Lip edema
• Part of generalised edema ( Nephritis , NS ,
cardiac failure, kwashiorkor)
• Severe cough and excessive crying
• Local causes  conjunctivitis , stye
• Angioedema
• Dermatomyositis
• Hypothyroidism
• IMN (occassionally)

209. Microphthalmos
• Reduction in size of all ocular structures
• Congenital infections  CMV , Rubella ,
Toxoplasmosis
• Goldenhar syndrome
• CHARGE syndrome
• Microphthalmia with colobomata is usualy an
AD inheritance

210. Eye lid colobomas
• Eyelid defects
• Lower eyelid  Tracher collins syndrome
• Upper eyelid  Goldenhar’s syndrome
• CHARGE
• Coloboma  developmental defect of any
protion of eye ( MC iris)

211. Ptosis
• Transient in new born
• Congenital ptosis ( U/L or B/L )
• Oculomotor palsy
• Horner’s syndrome
• Myasthenia gravis
• Noonan syndrome
• Myotonic dystrophy
• Local eye lesions like edema of lids

212. Proptosis
• Malignancies  Neuroblastoma , Leukemia ,
Retinoblastoma , chloroma of AML ,
Langerhan cell histiocytosis
• Cavernous hemangioma , Optic nerve glioma
• Craniostenostosis  Apert’s syndrome ,
Crouzon’s syndrome
• Hyperthyroidism

213. Epicanthic fold
• It is a crescent shaped fold of skin , originating
below the eye and sweeps upwards to blend
with upper eye lid so that the inner canthus is
covered
• Tends to disappear as the bridge of nose get
elevated with the growth of child
• So flat nasal bridge gives extra skin to show up
as a fold

214. • Another reason  syndromes with loose skin
• Unilateral epicanthic fold  torticollis
• Classic in down syndrome
• Races  but not so prominent to cover the
inner portion of both lids

215. • Seen in some normal newborns , disappears
by 1-3 months , as the bridge of the nose
grows
• Down’s syndrome , Noonan’s syndrome
,Turner’s syndrome , De lange syndrome ,
Smith- Lemli- Optiz syndrome , Ehler Danlos
syndrome , Cri du chat syndrome , William’ s
syndome , Foetal alcohol syndrome , Foetal
hydantoin syndrome

216. Mangloid slant
• Slant is upwards
• Slanting from medial to lateral
• Racial
• Down’s syndorme
• Prader Willi syndrome

217. Anti mangloid slant
• Down ward slanting of eyes
• Treacher Collins syndrome
• Noonan syndrome
• Turner’s syndorme
• Apert’s syndrome
• Edward syndrome

218. • Down ward slant under growth of maxilla
laterally
• Upward slant  under growth of midline part
of anterior frontal brain

219. Hypertelorism
• Distance between the medial canthus of two
eyes is more than the width of each eyes
• Part of many syndromes
• Noonan , , Turner , Apert , Crouzen , Williams ,
Zellweger ,
• Normal variation

220. • Standard defenition
• Inerpupillary distance(orbital spacing ) is
measured in forward gaze and plotted
• > 3 SD is hypertelorsim

221. Telecanthus
• Displacement of inner canthi laterally,
eventhough the orbital spacing is normal
• There is reduction or absent visible sclera
medial to the iris along with lateral
displacement of lacrimal puncta

222. • Hypertelorism  may be due to hypertrophy
of lesser wing of sphenoid
• Hypertelorism ( Canthal Index) 
Distance between inner canthi divided by
distance between outer canthi >0.38

223. • Hypotelorism
Distance between inner canthi divide by
distance between outer canthi <0.32

224. Synorphrys
• Eye brows meeting each other in midline
• Normal
• Cornelia De Lange syndrome

225. Eyelashes
• Sparse in hypothyroidism
• Long eyelashes normal
• No association with TB

226. Conjunctiva
• Xerosis
• Subconjunctival haemorrhage

227. Heterochromia
• Assymetry of colour of iris
• Congenital horner’s syndrome
• Secondary to inflammation of the eye
• Sporadic

228. Chediac higashi syndrome
• Hypopigmentation of eyes ,
Skin and hair
• Recurrent bacterial infection
• Mild bleeding diathesis

229. Aniridia
• Absent iris , usually B/L
• Photophobia
• Impaired visual acuity
• Association with Wilm’s tumour  Children
with aniridia should be checked for
Chromosome 11 deletion
• May be familial
• May be associated with hemihypertrophy

230. Blue sclera
• Normal newborn or small infants
• Osteogenesis imperfecta
• Ehler Danlos syndrome

231. White’s eye reflex or cat’s eye reflex
• Normally when light is shown through the
pupil a red flare is seen
• Here it may be absent and pupil may appear
white
• Reflex can arise from lens , uveal tract and
retina
• MC cause is cataract
• Retinoblastoma , ROP

232. Other findings …
• Cataract
• Buphthalmos(congenital glaucoma)
• Optic atrophy
• Papilloedema
• RP
• KF ring
• Strabismus
• Setting sun sign

233. Ears
Low set ears
• An imaginary line joining medial and lateral
canthi is extended towards the ear
• Normally 1/3rd of ear comes above this line
• When less than 20% is above , it is said to be
low set ears
• A line through the lateral canthus should cut
the insertion of auricle on the side of the head

234. • Small low set ears are seen in Down’s
syndrome
• Large prominent  Marfan’s , Fragile X ,
• Deformed pinna  treacher Collins ,
Goldenhar’s syndome

235. Low set ears
• Apert’s syndrome
• Carpenter’s syndorme
• Di George syndrome
• Noonan’s syndrome
• Potter’s syndrome
• Trisomy 13
• Trisomy 18
• Turner’s syndrome
• And many dysmorphic syndromes

236. Protuberant ear
• The normal ear makes an angle of no more
than 10 degree with the scalp
• > 15 degrees is protuberant
• > 20 degrees is Posterior rotation of pinna

237. Bat ear
• Protruding ear with poorly formed folds of
helix

238. Pre auricular tags
• Firm as it contains a bit of cartilage
• Benign condition
• Hearing assessment may be considered
• Pre auricular pits are generally benign and run
in families
• Ask about discharge / hearing loss
• U/L large ear may be positional , like Torticollis

239. • Microtia  most children with microtia will
have hearing loss
• Crumpled pinna
• Tragus sign
• AOM
• Deafness

240. Nose
• Broad nasal root 
I. Craniofrontonasal dysplasia
II. GM1 Gangliosidosis
• Squared nasal root  Di George syndrome

241. Anteverted nose
• Acrodysostosis
• When the dorsum of nose is very short , nasal
tip is pulled upwards and this results in
anteverted nose

242. Beaked nose
• Unusually pointed prominent nose
• Or nose with poorly developed ala nasi so that
the nasal septum is seen more prominent
• Seckel syndrome
• Trisomies
• Algille syndrome

243. Mouth
• Normally mouth is constructed such that
outer edges of the lips fall on pependicular
dropped from the centre of either pupil when
eyes looking straight ahead
• When edges fall outside  macrostomia
• Microstomia

244. • Large mouth  Goldenhar syndrome
• Mandibular hypoplasia  Pierre Robin
syndrome
• Angular stomatitis  Riboflavin deficiency ,
congenital syphilis

245. Philtreum
• A long nose results in short philtrum and a
short nose results in long philtrum
• Long philtrum  William’s syndrome ,
Cornelia de Lange syndrome
• Short philtrum  Foetal alcohol syndrome
• Multiple frenulum  Ellis van Creveld
syndrome

246. Palate
• High arched  if the roof of palate is not seen
when the examiner’s eye is at the level of
upper incisor teeth and patient keeping
mouth wide open
• Prominent palatal ridging is due to poor
tongue thrusting of the baby which can be
due to neurological deficits resulting in poor
sucking

247. • Ridges make the palate look very narrow
• Cleft palate  isolated anomaly , trisomy18 ,
Pierre Robin syndrome, Beckwith-Wiedemann
syndrome , Foetal hydantoin syndrome
• Look for isolated cleft lip if there is nasal
twang of voice
• Submucous cleft will have to be palpated for

248. • Bifid uvula  Apert’s syndrome , Di George
syndrome , Treacher collin syndrome
• Painful ulcers  HZV
• Herpangioma produces painful ulcers in
oropharynx , soft palate and uvula

249. Drooling
• Normal during teething
• Stomatitis
• Acute Epiglottitis /Diphtheria / Tonsillitis
/Herpangioma
• Pseudobulbar palsy

250. Dry mouth
• Dehydration
• Mouth breathing
• Antihistamines
• Atropine like drugs

251. Oral thrush
• Antibiotics
• Steroids
• AIDS
• Hypoparathyroidism

252. Trismus
• Tetanus
• Infantile Gaucher’s disease
• Part of dystonia (metaclopramide poisoning )
• TMJ arthritis (JRA)
• Encephalitis

253. Cry
• Shrill cry in CNS insults like meningitis
• Cat like mewing cry  Cri du chat syndrome
• Weak cry in Neuromuscular disorders 
Werdnig Hoffman syndrome
• Crying on handling  painful condtions like
arthritis , # , meningitis
• Hoarse cry  hypothyroidism , laryngitis

254. Teeth
• Delayed dentition
• No teeth upto 13 month of age is considered
as delayed dentition
• Constitutional delay
• Hypothyroidism
• Hypopituitarism
• Rickets
• PEM

255. Discoloured teeth
• Poor oral hygiene
• Tetracycline therapy (Brownish)
• Enamel hypoplasia (Brownish)
• Kernicterus ( Brownish)
• Porphyria ( reddish)
• Iron Therapy ( blackish)
• Endemic Fluorosis ( Chalk white pathces , or
dull unglazed tooth , pitting etc)

256. Gum Hyperplasia
• Poor oral hygiene
• Dilantin therapy
• Acute Monocytic Leukemia
• Scurvy
• Epulis
• Delayed dentition
• Nursing caries

257. • Blue line across ridges of gum  lead
poisoning
• Swollen , spongy , bleeding gums  scurvy
• Neonatal teeth  normal varient , Ellis van
Creveld syndrome

258. Tongue
• Macroglossia
a. Congenital hypothyroidism
b. Down’s syndrome
c. Beckwith Wiedmann syndrome
d. Local causes  Cystic hygroma, hemangioma
e. Hurler’s syndrome ,GSD type 2
f. Tongue protrusion without macroglossia occur
in MR
g. Foote’s sign  rhythmic protrusion of tongue in
newborn period suggest ICH , cerebral edema

259. Coating of tongue
• Poor oral hygiene
• Typhoid fever
• Uremia

260. Ulcer of the frenulum
• In severe cough , like whooping cough ( due to
mechanical injury )

261. • Smooth bald tongue without papillae may be
seen in Vitamin B12 deficiency
• Geographical tongue shows reddis areas of
desquamation

262. Neck
• Short neck
Ratio between neck length : Height
Normal  1:13
>13 short neck
Neck length  distance between external
occipital protuberane and C7 spine

263. Short neck
• Turner’s syndrome
• Noonan’s syndrome
• Morquio syndrome
• Down’s syndrome
• Klippel-Feil deformity
• Sprangel’s deformity
• Platybasia
• Hypothyroidism
• Hurler’s syndrome

264. Goitre
• Puberty
• Iodine deficiency
• Hashimotos
• TPO Deficiency
• Grave’s disease

265. Webbing of neck
• Turner’s syndorme
• Noonan’s syndrome

266. Opisthotonus
• Kernicterus
• Tetanus
• Meningitis
• Infantile Gaucher’s disease
• Part of dystonia ( metoclopramide poisoning )
• Part of decerebration
• Local causes  Retropharyngeal abscess

267. Typical postures
• Epiglottitis  sitting up , leaning forward,
preferred not to lie down
• Peritonitis  lies quietly , does not move
much
• Meningitis  Lies on one side with thighs
flexed abdomen , or opisthotonus posture
• Lordotic posture  Muscular dystrophies , B/L
Hip problem

268. Chest
• Clavicle  absent – cleidocraial dysostosis
• Pre sternal edema may be found in mumps
• Widely spread nipples may be seen in Turner’s
syndrome  space between nipples is >25%
of the chest circumference
• Sheild shaped chest in Turner’s syndrome
• Narrow thoracic cage  Ellis van Crevald
syndrome , Jeune syndrome

269. • Absecne of Pectoralis muscle  Poland
syndrome
• Sprengel’s deformity  High position of
scapula with lower angle turned towards the
spine
• Gynaecomastia

270. Spine
• Scoliosis
• Gibbus

271. Upper limbs
• Clinodactyly  absence of P2 of little finger
 Down’s syndrome
• Brachydactyly  Down’s syndrome ,
Achondroplasia , Prader Willi syndrome
• Camptodactyly  Fixed flexion deformity of
5th finger  Normal , heritable , Down’s
syndrome

272. • Hypoplasia of the 4Th metacarpal is seen in
Pseuodohypoparathyroidism
• Here the ring finger will be shorter than the
index finger
• Reverse is true in normal children

273. • Broad thumb  Rubinstein –Taybi syndrome
• Bifid thumb  Holt oram , Fanconi
• Arachnodactyly  unduly long fingers 
Marfan syndrome , Homocystinuria ,
Hypogonadism , normal
• Thumb sign  Marfan’s , absent in
homocystinuria

274. • Wrist sign  thumb and the fifth finger will
overlap at wrist
• Trident sign  in achondroplasia  thumb
and fisrt two fingers …seperated from 4th and
5th fingers
• Overriding finger’s  trisomy 18

275. Polydactyly
• Post axial  associated with little finger
• Pre axial  associated with thumb
• Polydactyly of four limbs  Ellis Van crevald
syndrome
• Laurence Moon Biedl syndrome

276. Syndactyly
• Can be complete or partial
• Apert’s syndrome
• Trisomy 13
• Smith Lemli Optiz syndrome
• MC between 2nd and 3rd digits

277. Others
• Absent digits
• Lobster hand
• Absent thumb
• Triphalangeal thumb
• Osler’s nodes transient , small , pea sized ,
tender , nodules in pulp of fingers , toes ,
thenar/hypothenar eminences (IE)
• Janeway lesions painless erythematous
patches over palms and soles
• Absent clavicle
• Phocomelia

278. Nail
• Koilonychia
• Half and half nail  CRF
• White nail  anemia , hypoalbumenia
• Red nail  Polycythemia
• Blue lunule of nail  wilson’s disease

279. • Capillary pulsations Severe AR
• Nail fold telangectesia  Dermatomyositis ,
SS,SLE
• Nail – Patella syndrome 
• Hypoplastic nails 
• Hyper convex nail Turenr’s , Noonan syndrome
• Black nails  Addisons
• Splinter haemorrhages  Infective E

280. • Koilonychia soft , thin , brittile ,flattened , or
concave (spoon shaped) , nail seen in iron
defieciency
• May not be seen uniformily in all nails
• Can be inherited also

281. Dermatiglyphics
• Down’s syndrome  single palmar crease
• Kennedy crease  a deep sole crease
between first and second toe

282. Lower limbs
• Valgus  directed away from midline
• Cubitus valgus/varus
• Coxa varus/valgus
• Genu valgus/ varus
• Both Genu varus and valgus is physiological in
children upto 1.5 to 2 years

283. • Genu recurvatum  hyperextension of the
knee joint
• Pesplanus /flat foot  physiological in 1.5 to 2
years
• Pes cavus/claw foot
• Talipus equino varus  foot is adducted
downwards and inwards with medial
concavity
• Hallux valgus/varus

284. thanku