B neonatology.pptx

History and physical examination
of neonates

a. Maternal profile:
 age of the mother,
 occupation,
parity,
blood group and Rh,
 chronic maternal illnesses (diabetes, hypertension, HIV, TB,
renal diseases, asthma, etc),
history of sexually transmitted diseases (symptoms like vaginal
discharge, genital ulcers, or investigations like VDRL, HIV test,
Hepatitis B virus status)
1. Neonatal history taking

b. Current pregnancy:
LNMP (last normal menstrual period),
gestational age,
 ANC,
 bleeding, diabetes, thyroid diseases, preeclampsia, eclampsia,
acute (eg:UTI, malaria and covid-19) or chronic infection and
 maternal nutritional history during pregnancy (detailed during first,
second and third trimester)

c. Previous pregnancy:
history of abortion,
fetal death,
early neonatal death,
 premature and/low birth weight birth,
history of early neonatal jaundice,
history of birth defect.

e. Drug history:
history of alcohol ingestion,
cigarette smoking ,
any medications during pregnancy (anticonvulsants, anti
TB, warfarin, HAART, thyroid treatment drugs , antenatal
steroid use, contraceptives, cotrimoxazole, Aspirin,
Albendazole)

f. Social, personal and family history:
 Family size,
marital status,
housing conditions,
water source, waste disposal,
personal hygiene (hand washing habits, toilet use,
bathing)

h. Presenting compliant:
like failure to suckle the breast,
fever,
breathing difficulty,
abnormal body movement,
yellowish discoloration of the skin (jaundice),
altered mentation,
vomiting,
bleeding,
birth defects, etc

2 Neonatal physical examination
 Newborns are examined immediately after birth to
quickly assess their
respiratory effort,
circulation, and
temperature;
• to identify any major congenital abnormalities; and
• to check for any infectious or metabolic disease that requires
immediate treatment.

Unlike adults , the order of newborn physical
examination may not follow the usual cardinal
steps, use opportunities as issued.
Before even touching the infant, observe and
assess color, activity, posture, maturity, and
respirations.
Perform the examinations that cause the least
amount of disturbance first.

I. Vital signs
 A. Temperature. Normal axillary temperature in a
newborn ranges from 97.5°F to 99.3°F (36.5–37.4°C).
B. Respirations. The normal respiratory rate in a newborn
is 30 to 60 breaths/min. Periodic breathing (≥3 apneic
episodes lasting >3 seconds within a 20-second period of
otherwise normal respirations) is considered normal and
common in newborns.

C. Blood pressure.
D. Heart rate. The normal heart rate is 70 to 190
beats/min in the newborn
E. Pulse oximetry. Pulse oximetry in the neonatal
intensive care unit (NICU) has become standard of
care and is sometimes referred to as the “fifth vital
sign.”

the pulse oximeter may give inaccurate or inconsistent
readings during:
• If you have poor circulation,
• dark skin pigmentation,
• thick skin,
• currently use tobacco,
• your skin temperature is cool, or
• you are wearing dark fingernail polish, long, artificial nails or
• if your fingers are not clean,

Pulse oximetry is also used
• diagnostically in persistent pulmonary hypertension and
• to screen for critical congenital heart disease (CCHD)
Screening pulse oximetry for critical cyanotic heart
disease is recommended for all infants before
discharge.

Screening pulse oximetry for CCHD
Twelve heart conditions that are detected by screening for
CCHD with pulse oximetry include the following.
i. Core/primary targets for CCHD screening (7 most common critical
lesions that present with hypoxemia): Hypoplastic left heart syndrome,
pulmonary atresia with intact ventricular septum, tetralogy of Fallot, total
anomalous pulmonary venous return, transposition of the great arteries,
tricuspid atresia, and truncus arteriosus.

ii. Additional/secondary targets for CCHD screening (5 critical
lesions that either are less common but present with
hypoxia or are more common and do not present with
hypoxia): Coarctation of the aorta with patent ductus
arteriosus (PDA), double outlet right ventricle, Ebstein
anomaly, interrupted aortic arch/aortic atresia, and single
ventricle physiology.

Heart conditions that are not screenable by pulse
oximetry: Aortic stenosis without PDA, Ebstein
anomaly without right to left shunt, coarctation of
the aorta without a PDA, and any other left to right
shunting lesions.

 Screen at 24 to 48 hours of age or as late as possible for early
discharge.
Obtain oxygen saturation in the right hand and either fofoot
Failed screen. Is the infant hemodynamically stable? Perform a
comprehensive evaluation for hypoxia. Rule out other reasons for
hypoxia (infectious and pulmonary causes). CCHD needs to be
excluded with a diagnostic echocardiogram.

Passed screen. False positives and false negatives
may occur. A passed test does not mean the infant
does not have CCHD. This test does not detect all
cases of congenital heart defects.

Hyperoxic test (give 100 % oxygen and measure
the saturation)
• Patient with pulmonary disease has increases oxygen
saturation by > 10%
• Those fixed right to left shunt(cyanotic) has increase
saturation by <10%.
• Doesn't rule out acyanotic CHD

II. Anthropometry
 Head circumference
 length
 weight,
chest circumference,
 abdominal circumference, and
gestational age

A. Head circumference and percentile: normally 32 to 37
cm at term;
B. Length and percentile. Normal length is 48 to 52 cm,
with the percentile determined by the CDC/WHO table.
C. Chest circumference. This is a good indicator of low
birthweight. Normal is 30 to 35 cm (head circumference is
typically 2 cm larger than chest circumference).

D. Abdominal circumference is usually not measured
unless there is abdominal distension, but a baseline can be
valuable because if there is a question of a change in
abdominal distension, a measurement is available to
compare.
 Measure the distance 1 cm above the umbilicus in the supine
position, not at or below the umbilicus (a full bladder may
interfere with the measurement).

Multiple variables can affect the measurement:
birthweight,
time of last feeding and time of last stool,
resistance of the abdominal wall,
phase of breathing, and
amount of abdominal fat.

Increases of abdominal circumference of <1.5 cm occur normally
and should not be a cause of concern, especially if there are no
other abnormal clinical signs.
An increase in abdominal girth >2 cm may be considered
abnormal, but
studies have shown that abdominal circumference may vary by
3.5 cm in one feeding cycle in normal premature infants.

Classification of the newborn
1. Based on the gestational age,
2. Based on the birth weight
3. Based on with respect to birth weight and
gestational age

1. Based on the gestational age
Gestational age (or menstrual age), is the “time
elapsed between the first day of the last menstrual
period (LMP) and the day of delivery.”
It is critical information for evaluation of the infant
and to anticipate high-risk infants and
complications.

Gestational age can be determined prenatally in the
fetus and postnatally in the newborn.
postnatal gestational age assessment including :
• Rapidassessment of gestational age at delivery,
• Direct ophthalmoscopy of the lens of the eye, and
• Various examinations including assessment of physical and
neuromuscular maturity. &
• Metabolic gestational age dating

• 1. Rapid assessment of gestational age in the delivery room:-
One method for rapid gestational age assessment includes the
most useful clinical signs in differentiating among premature,
borderline mature, and full-term infants, which are as follows
(in order of utility):
• creases in the sole of the foot,
• size of the breast nodule,
• nature of the scalp hair,
• cartilaginous development of the earlobe,
• scrotal rugae, and testicular descent in males.

2. Direct ophthalmoscopy of the lens
Is another method for determination of gestational
age at 27 to 34 weeks only b/c:-
• Before 27 weeks, the cornea is too opaque to allow
visualization;
• after 34 weeks, atrophy of the vessels of the lens occurs.
 This method is reliable to ±2 weeks.

the assessment must be performed within 48
hours of birth before the vessels atrophy.
This method is highly accurate and is not affected
by alert states or neurologic deficits.

3. Examinations based on physical and
neuromuscular maturity. These include the
• Dubowitz method,
• Ballard maturational score, and
• New Ballard score.

a. Dubowitz method:-a method that included a
total of 21 physical and neurologic assessments.
 Limitations:-
• difficult and time consuming (up to 7 minutes)
• overestimated gestational age in premature infants.

b. Ballard maturational score. The Ballard method
(1979) shortened the Dubowitz method (now only 3.5
minutes) and had only 6 physical and 6 neurologic
criteria.
Limitation:- This method was considered inaccurate at
assessing gestational age in preterm neonates and
postterm and small for gestational age infants.

c. New Ballard score. Ballard et al. (1991) later refined
and expanded their test to include the assessment of
extremely premature infants (20 weeks).
 It is best performed at <12 hours of age if the infant is
<26 weeks’ gestation. If the infant is >26 weeks’
gestation, there is no optimal age of examination up to
96 hours.

The examination is accurate whether the infant is
sick or well to within 2 weeks of gestational age

• 4. Metabolic gestational age dating. ??????????

2. Based on the birth weight
 Macrosomia : birth weight of 4000 gram and above
 Normal weight : 2500 – 3999 grams
 Low birth weight : 1500 – 2499 grams
 Very low birth weight : 1000 – 1499 grams
Extremely low birth weight : less than 1000 grams

3. Based on with respect to birth
weight and gestational age
Appropriate for gestational age (AGA) if the birth
weight is between 10-90%
Large for gestational age (LGA) if birth weight is
greater than 90%
Small for gestational age (SGA) if birth weight is
less than 10%

III. General appearance
 Observe the infant and record the general
appearance (eg, activity, skin color, respirations,
posture, obvious congenital abnormalities).
The normal resting posture of a term newborn is in
flexion; the normal posture of a preterm baby is in
extension at rest
 For an infant born in breech presentation, the
infant may have fully flexed hips and knees, feet
may be near the mouth, or legs and feet may be to
the side of the baby.

Note if the general movements are normal,
• note the skin color,
• look at chest and note respirations and see if breathing is normal or
labored, and
• look for any obvious major congenital anomalies.
• Are there any signs or symptoms of infection (fever, lethargy,
hypothermia, rashes, tachypnea, abdominal distension, irritability,
vomiting) or
• metabolic disease (growth restriction, rash, jaundice, seizures,
hepatosplenomegaly, microcephaly, failure to thrive, anomalies)?

V. Skin
A. Color.
Regardless of race, skin color is normally reddish-
purple and changes to a pinkish red in about 24
hours after birth.
There are d/t abnormal skin discoloration which
due to d/t systemic disorders

• 1. Plethora (deep, rosy red [ruddy] color).
DDX:- polycythemia, overoxygenated or overheated infant.
It is best to obtain a central hematocrit on any plethoric
infant.
• 2. Jaundice
yellowish color if secondary to indirect hyperbilirubinemia;
 greenish color if secondary to direct hyperbilirubinemia

• 3. Pallor (washed-out, whitish appearance). Pallor reflects poor perfusion.
 It may be secondary to anemia, birth asphyxia, shock, sepsis, or PDA. Ductal pallor is the
term sometimes used to denote pallor associated with PDA.
• 4. Poor perfusion. Some descriptors include “infant doesn’t look good” or “looks
mottled.”
 Check capillary refill time by pressing on the sternum for 5 seconds with a finger and
noting the time needed for the color to return.
• 5. Excessive pigmentation.
 Infants with more melanin can have increased pigment in the following places: in the
axilla, over the scrotum or labia, over the helices of the ear, at the base of the nails, and
around the umbilicus.

• 6. Cyanosis (desaturation of >3–5 g/dL of hemoglobin is
usually necessary for one to note a bluish color)
types:-
a. Central cyanosis
 bluish skin, including the tongue, mucosal membranes, and lips.
 Low partial pressure of oxygen (PaO2) and low arterial oxygen saturation
(SaO2).
 Caused by low oxygen saturation in the blood. Rule out cardiac, lung,
central nervous system (CNS), metabolic, or hematologic diseases.

• b. Peripheral cyanosis
 bluish skin, especially distal extremities with pink lips, mucous membranes,
and tongue
 Normal oxygen saturation (normal PaO2).
 It is secondary to an increase in deoxygenated blood on the venous side
because of increased oxygen extraction by the tissues.
 Causes of peripheral cyanosis include vasomotor instability, venous
obstruction (venous thrombosis), polycythemia, low cardiac output, shock,
sepsis, vasoconstriction secondary to cold exposure, and elevated venous
pressure.

• d. Perioral cyanosis
bluish color around the lips and philtrum [nose to upper llip
 Normal oxygen saturation at birth.
Common after birth, due to the close proximity of the blood
vessels to the skin (infants have a superficial perioral venous
plexus).
It is not a sign of peripheral or central cyanosis and usually
resolves after 48 hours.

• f. Pseudocyanosis.
 Normal oxygen saturation (normal PaO2).
 Bluish color of the skin without hypoxemia, hemoglobin abnormality, or
peripheral vasoconstriction.
 The mucous membranes of the mouth are pink.
 Pressure on the skin fails to blanch.
 This can mimic peripheral cyanosis except there is no blanching of the
skin when pressure is applied.
 In neonates, it is commonly caused by fluorescent lighting. It can also
be due to drug exposure (amiodarone).

• g. Differential cyanosis. The upper part of the body is pink, and the
lower body is cyanotic, or vice versa.
• i. Differential cyanosis (most common).
 Occurs in infants with a PDA with a right to left shunt.
 The preductal part of the body (upper) is pink, and the postductal body part (lower) is
cyanotic.
 Oxygen saturation in the right hand is greater than in the foot.
 Seen in severe coarctation of aorta or interrupted aortic arch or
 in a newborn with a structurally normal heart, it can occur with severe persistent
pulmonary hypertension with right to left shunting through the ductus arteriosus.

• ii. Reverse differential cyanosis.
 This is a newborn cardiac emergency.
 The preductal part of the body (upper part) is cyanotic (blue), and the postductal part
(lower part) is pink.
 This occurs when oxygen saturation is lower in the upper extremity (right hand) than in
the lower extremity (foot).
 This occurs with complete transposition of the great arteries with PDA and persistent
pulmonary hypertension or
 in transposition of the great arteries with PDA and preductal coarctation or aortic arch
interruption and
 supracardiac total anomalous pulmonary venous connection.
 The ductus allows saturated blood to perfuse the lower body.

• Cyanosis with asphyxia stages after birth (historical
degrees of severity)
• i. Asphyxia livida (early stage). The phase during asphyxia
when primary apnea occurs (heart rate decreases, respiratory
efforts may be present, blood pressure rises then drops,
arterial partial pressure of carbon dioxide [PaCO2] and pH
increase). The infant is cyanotic, has some muscle tone, and
has adequate circulation.
• ii. Asphyxia pallida (late stage). The phase during asphyxia
when secondary apnea occurs (heart rate and blood pressure
drop, circulatory collapse, shock, low PaO2, increased PaCO2,
low pH). The infant has pale gray/white skin and is limp;
reflexes are absent, and respiratory efforts are absent.

• 7. Extensive bruising (ecchymoses) may be
confused with cyanosis.
• 8. “Blue on pink” or “pink on blue.” Whereas some
infants are pink and well perfused and others are
clearly cyanotic, some do not fit in either of these
categories. They may appear bluish with pink
undertones or pink with bluish undertones. This
coloration may be secondary to poor perfusion,
inadequate oxygenation, inadequate ventilation, or
polycythemia.

• 9. Harlequin sign/coloration.
• A clear line of demarcation between an area of redness
and an area of normal coloration
• This is a vascular phenomenon, and
• the cause is usually unknown, but it may be due to
immaturity of the hypothalamic center that controls
the dilation of peripheral blood vessels. The coloration
can be benign and transient (a few seconds to <30
minutes) or can be indicative of shunting of blood
(persistent pulmonary hypertension or coarctation of
the aorta).

• There can be varying degrees of redness and
perfusion.
• The demarcating line may run from the head to the
belly, dividing the body into right and left halves, or
it may develop in the dependent half of the body
when the newborn is lying on one side. The
dependent half is usually deep red, and the upper
half is pale

B. Hair characteristics of the newborn
can vary and can indicate a serious condition, be part of a
syndrome, or be normal and isolated.
Look at not only the color of the hair but also the amount of hair.
Does the infant have hair whorls, which are patches of hair
growing in a circular direction with a center point (may indicate
intellectual disability and abnormal brain growth)?
Does the infant have dry, coarse brittle hair (hypothyroidism)?
Does the infant have normal hair mixed with hypopigmented hair
(oculocerebral syndrome with hypopigmentation, Cross
syndrome)

• Lanugo.
 Downy fine unpigmented hair that acts as a
protectant in the womb
that is seen in infants on surfaces such as the face,
back, or ears;
more common in premature infants but can be
seen in term infants.
By the time they are term and born, most infants
have lost their lanugo.

• Dry skin.
 Infants can have a dry flaky skin, and
postdate or postmature infants can exhibit
excessive peeling and cracking of the skin.
Congenital syphilis and candidiasis can present
with peeling skin at birth.

VI. Head
 Note for the general shape of the head. Some amount of
molding is normal
Check any cuts or bruises .
Check for microcephaly or macrocephaly.
Transillumination for severe hydrocephalus and
hydranencephaly.
Swelling may represent caput succedaneum, a
cephalohematoma, or a subgaleal hemorrhage.
 Examine the occipital, parietal, and frontal bones and the
suture lines.
 The fontanelles should be soft when palpated.

Look for unusual hair growth (hair whorls are
patches of hair growing in a circular direction).
Multiple hair whorls or hair whorls in unusual
locations can signify abnormal brain growth.
Abnormal hair can also be seen in some inborn
errors of metabolism, including argininosuccinic
acidemia, lysinuric protein intolerance, or Menkes
kinky hair syndrome.

• A. Macrocephaly.
Occipitofrontal circumference is >90th percentile.
DDX:-
• May be normal or
• secondary to hydrocephaly, hydranencephaly, or a
• neuroendocrine or chromosomal disorder.

• B. Microcephaly.
 Occipitofrontal circumference is <10th percentile, and
 brain atrophy or decreased brain size can occur.
 Causes include
• infections (rubella, chickenpox, toxoplasmosis, cytomegalovirus, Zika),
• genetic mutations,
• malnutrition,
• exposure to toxins or prescription medications,
• untreated PKU, or alcohol and
• substance abuse.

• C. fontanelles
Six fontanelles are present during infancy
• Anterior Fontanelle
• Posterior Fontanelle
• pair mastoid fontanelle (posterolateral fontanell)
• Pair Sphenoid Fontanelle(the anterolateral fontanelle)
NB :- there is the so called THIRD FONTANELL between the anterior and
posterior fontanelles correlates with certain conditions like Down
syndrome and congenital infections such as rubella.

• Anterior Fontanelle
The anterior fontanelle is the largest of the six
fontanelles, and it resembles a diamond-shape ranging
in size from 0.6 cm to 3.6 cm with a mean of 2.1 cm
Infants of African descent statically have larger
fontanelles that range from 1.4 to 4.7 cm,
The average closure time of the anterior fontanelle
ranges from 13 to 24 months.
in terms of sex, the fontanelles of male infants will
closer sooner compared to female infants.

The most common conditions associated with a
large anterior fontanelle or a delay in its closure are
as listed: Down syndrome, achondroplasia,
congenital hypothyroidism, rickets, and elevated
intracranial pressures
A small anterior fontanelle may be associated with
hyperthyroidism, microcephaly, or craniosynostosis.

• Posterior Fontanelle
completely closes within about six to eight weeks after
birth.
On average, the posterior fontanelle is 0.5 cm in Caucasian
infants and 0.7 cm infants of African descent,
 the delayed closure of the posterior fontanelle is
associated with hydrocephalus or congenital
hypothyroidism.



• Mastoid Fontanelle
 The mastoid fontanelle, a paired structure, can be found at the
intersection of temporal, parietal, and occipital bones.
 Additionally, the mastoid fontanelle also has the name of the
posterolateral fontanelle.
 These fontanelles may close anywhere from six to eighteen months of
age.
• Sphenoid Fontanell
 Similarly, the sphenoid fontanelle is also paired.
 Its location can be on either side of the skull at the convergence of the
sphenoid, parietal, temporal, and frontal bone.
 It is also known as the anterolateral fontanelle;
 their closure occurs at approximately three to sixth-month mark after
birth

• medical conditions that are associated with a bulging
fontanelle are tsystems:
•
Neurological
Hydrocephalus, brain tumors, intracranial hemorrhage
Cardiovascular
Congestive heart failure, dural sinus thrombosis
Hematologic
Polycythemia, anemia, leukemia
Infectious
Meningitis, encephalitis, roseola, shigella, mononucleosis,
poliomyelitis, abscess

 Endocrine
 Hyperthyroidism, hypothyroidism, hypoparathyroidism,
pseudohypoparathyroidism
 Metabolic
 Diabetic ketoacidosis, electrolyte abnormalities, uremia, galactosemia,
hypophosphatasia, osteoporosis
 Miscellaneous
 Trauma, hypoxemia, dermoid cysts, lead encephalopathy, aluminum toxicity,
hypervitaminosis A, coronal synostosis

• E. Caput succedaneum.
A diffuse edematous swelling of the soft tissues of the
scalp that may extend across the suture lines but usually
is unilateral.
 It does not increase after birth.
 It is secondary to the pressure of the uterus or vaginal
wall on areas of the fetal head bordering the caput.
Elicit the characteristic pitting edema by putting firm
constant pressure in one area.
 Usually, it resolves within several days

• F. Cephalhematoma.
A subperiosteal hemorrhage that never extends across the
suture line and
can be secondary to a traumatic delivery or forceps
delivery.
 It increases after birth.
Radiographs or computed tomography scans of the head
should be obtained if an underlying skull fracture is
suspected (<5% of all cephalhematomas).
 Hematocrit and bilirubin levels should be monitored.
 Most cephalhematomas resolve in 2 to 3 weeks.
Aspiration of the hematoma is rarely necessary

• Other complication of cephalhematoma includes:-
calssification or opassification of hematoma(surgical excision of
these calcified or ossified hematoma)
 infection and sepsis,
• with Escherichia coli being the most commonly reported causative agent.
• present as erythematous, fluctuant masses that may have expanded
from their baseline size.
• Needle aspiration and culture of the hematoma are considered to be
mandatory for suspected cases
• Osteomyelitis is a reported complication of an infected
cephalohematoma
• In these affected infants, treatment includes incision and drainage of the
abscess with debridement of the necrotic skull and a prolonged course of
parenteral antibiotics (eg, vancomycin , gentamicin , and cefotaxime ).

• G. Subgaleal hematoma/hemorrhage.
 The subgaleal area is the area between the scalp and the
skull and is a very large space.
Hemorrhage occurs between the epicranial aponeurosis and
the periosteum, and
when pressure is placed, a fluid wave can be seen.
 It can cross over the suture line and onto the neck or ear. It
progresses after birth.
It may be necessary to replace blood volume lost and correct
coagulopathy if present, and hemorrhage can be life
threatening.
It can be caused by asphyxia, vacuum extraction, forceps
delivery, or coagulopathy

serial measurements of hematocrits and
their occipital frontal circumference, which
increases 1 cm with each 40 mL of blood deposited
into the subgaleal space is important.

• H. Increased intracranial pressure.
The increased pressure may be secondary to
• hydrocephalus,
• hypoxic-ischemic brain injury,
• intracranial hemorrhage, or subdural hematoma.
The following signs are evident in an infant with
increased intracranial pressure:
1. Bulging anterior fontanelle
2. Separated sutures
3. Paralysis of upward gaze (“setting-sun sign”)
4. Prominent veins of the scalp
5. Increasing macrocephaly

• I. Craniosynostosis.
The premature closure of ≥1 sutures of the skull;
must be considered in any infant with an asymmetric
skull.
On palpation of the skull, a bony ridge over the suture
line may be felt, and inability to move the cranial bones
freely may occur.
 Radiographs of the head should be performed, and
surgical consultation may be necessary.

• J. Craniotabes.
craniotabes is a congenital softening or thinness of the
skull that usually occurs around the suture lines (top and
back of head) and
disappears within days to a few weeks after birth.
It can also be associated with
• rickets,
• osteogenesis imperfecta,
• syphilis, and
• subclinical vitamin D deficiency in utero.

• K. Plagiocephaly.
An oblique shape of a head, which is asymmetric and
flattened.
 It can be seen in preemies and infants whose heads stay in
the same position.
Anterior plagiocephaly can be due to premature fusion of
the coronal or lambdoidal sutures.
• L. Brachycephaly.
This is caused by premature closure of the coronal suture
and causes the head to have a short broad appearance.
It can be seen in trisomy 21 or Apert syndrome.

• N. Acrocephaly.
The coronal and sagittal sutures close early.
The skull has a narrow appearance with a cone shape at
the top.
It can be seen in Crouzon and Apert syndromes.
• O. Dolichocephaly/scaphocephaly.
The sagittal suture closes prematurely, and there is a
restriction of lateral growth of the skull, resulting in a
long, narrow head.

• Apart syndrome is a multiple malformations
syndrome characterized by:
a craniosynostosis (premature fusion of skull bones);
craniofacial disorders (hypoplasia of middle floor);
symmetric fingers and sometime feet syndactyly (fusion
of fingers) giving mittens fingers appearance;
mental retardation at variable degree;
often associated with cardiac and visceral disorders



• Crouzon syndrome characterized by
 craniosynostosis,
 hypertelorism,
 exophthalmia,
 parrot-beaked nose,
 short upper lip,
 hypo plastic maxilla and a relative mandibular prognathism.
 Cranial malformation depends on the order and rate or progression of
suturalsynostosis.
 Brachycephaly is the most commonly observed, but scaphocephaly
and trigonocephaly also are described.
 A shallow orbit is an essential diagnostic feature.
 Ocular proptosis is a consequence and results in a high frequency of
conjunctivitis

VII. Neck
Eliciting the rooting reflex causes the infant to turn the head
and allows easier examination of the neck.
Palpate the sternocleidomastoid for a hematoma and the
thyroid for enlargement, and check for thyroglossal duct cysts.
Torticollis (“wry neck”). A shortening of the
sternocleidomastoid muscle that causes the head to go toward
the affected side. Treated initially with physical therapy.

• DDX for Webbed neck (with redundant skin) and
Short neck.
Seen in Turner,
 Noonan,
 Down, and
 Klippel-Feil syndromes.

• Noonan syndrome is a relatively common
autosomal dominant disorder
 characterized by minor facial dysmorphism
(hypertelorism, downward eye slant, and low-set ears),
proportionate short stature, and
 heart disease, most often pulmonic stenosis and
hypertrophic cardiomyopathy
Other common findings include a short webbed neck,
chest deformity (pectus excavatum), cryptorchidism,
intellectual disability (mental retardation), bleeding
diathesis, and lymphedema

Turner syndrome is an important cause of short stature
in girls and primary amenorrhea in young women that
is usually caused by loss of part or all of an X-
chromosom
 Physical findings —
• are short and stocky and have a squarely shaped chest
• Neonates may have congenital lymphedema of the hands and
feet and
• two or more of the following dysmorphic features: webbed
neck, nail dysplasia, high palate, and short fourth metacarpal .
• Hearing loss, hypothyroidism, and liver function
abnormalities can occur as these women get older

Klippel-Feil syndromes.???????

VIII. Face
Observe for obvious facial abnormalities such as
• symmetry of the face.
• Is there asymmetry of the face with crying?
• Note the general shape of the nose, mouth, and chin.
• Look for unequal movement of the mouth and lips.
• Coarse facies (can be seen in acromegaly or inborn errors of
metabolism) includes features such as large lips and tongue,
saddle-like nose, and large bulging head with prominent scalp
veins

Asymmetric crying face (ACF), also called congenital unilateral
lower lip palsy (CULLP).
• The face is symmetric at rest and asymmetric during crying, and
• the mouth is pulled down on one side and not moving on the other side.
• all the other functions of the facial muscles are normal (eg, forehead
wrinkling, closure of eyelids, normal sucking, no drooling).
• Incidence is 1 in 160 live births (usually term, less frequent in preterm) with
a male predominance.
• Major and minor malformations and deformations can be associated with
ACF (risk of anomalies is 3.5 times higher, and most common are
cardiovascular system and cervicofacial region).

• It can be caused by:-
1. Nerve compression of one of the branches of the facial
nerve during delivery (mandibular branch of the seventh
cranial nerve that innervates the DAOM and DLIM is
superficial and is easily compressed). Electromyography
shows abnormal values of the mandibular branch of the
facial nerve.

2. Agenesis or hypoplasia of the depressor anguli oris muscle
(DAOM). Usually on the left side. This muscle controls the
downward motion of the lip. The eye and forehead muscles
are unaffected with ACF. Ultrasound shows hypoplasia or
agenesis of the DAOM.
3. Hypoplasia of the depressor labii inferioris muscle
(DLIM) may be associated with other malformations.

Congenital facial nerve paralysis.
• This is caused by:-
1. Trauma. The most common cause is birth trauma. Risk
factors include an injury from forceps, a large baby, and
primiparity. On physical examination, there is facial
asymmetry with crying, the corner of the mouth droops,
there is drooling on the side of the paresis, the nasolabial
fold is absent in the paralyzed side, and there is partial
closing of the eye (ptosis). Most symptoms disappear within
the first week of life, but sometimes it may take several
months. If the palsy persists, absence of the nerve should be
ruled out.

2. Agenesis of the facial nerve nucleus (Moebius
syndrome) is a rare congenital neurologic disorder that is
due to the underdevelopment of cranial nerves VI (lateral
eye movement) and VII (facial expression). Infants have
facial paralysis, are unable to move their eyes from side to
side, and have difficulty swallowing.

• Ears. Evaluate for an unusual shape or an abnormal
position.
• Low-set ears (melotia). Seen with many congenital
anomalies, most commonly Treacher-Collins, Down,
triploidy, and trisomy 9 and 18 syndromes, fetal
aminopterin effects, and trisomy 13 and 21.

• Treacher-Collins,???????
• ,fetal aminopterin effects,?????

• Complete absence of the pinna of the ear (anotia) is
associated with thalidomide and retinoic acid
embryopathy. Bilateral anotia is sometimes seen in
infants of consanguineous parents.
• Large ears (macrotia). The auricle is large, and the
scaphoid fossa is the most exaggerated part. It is
usually bilateral and symmetric. It can be autosomal
dominant and can also be associated with Marfan
syndrome, fragile X syndrome, De Lange type 2
syndrome, and others.

• Small ears (microtia).
• Approximately 50% of infants with microtia will have an
underlying congenital syndrome.
• A hypoplastic ear may be an indicator of internal ear
abnormality
• Renal ultrasound is also recommended.
• Small ears are seen in trisomy 21, as well as trisomy 18 and
13 triploidy and thalidomide and retinoic acid
embryopathy.
• Floppy ears with no cartilage are associated with
bilateral renal agenesis, which is uniformly fatal.

X. Eyes
• Examine for:-
• ptosis - drooping of an upper eyelid caused by cranial
nerve III paralysis or weakness in the levator muscle.
Ptosis and ophthalmoparesis can be seen in transient
neonatal myasthenia gravis
• Motility. Transient binocular nystagmus is common in
infants <6 months, but monocular or constant
nystagmus should prompt referral. Intermittent
strabismus is also common in infants <6 months, but
poor motility of the eye muscles or large, constant eye
deviations should prompt referral

• Pupil examination. The pupillary light response is
present in newborns of 31 or more weeks’
gestation. Newborn pupils are small as the pupillary
reflex is still underdeveloped until age 5 months,
but they should be equal, round, and reactive to
light.
•

• Red reflex. A bright direct ophthalmoscope should
be used to evaluate the red reflex of both eyes
simultaneously in a darkened room.
• Normaly-The reflex should be equal, bright reddish-
yellow, or light gray in brown-eyed infants, with no
opacifications.
• abnormaly-Leukocoria (opacification of the lens). A
white pupil with loss of a red light reflex.

• DDX For Leukocoria (opacification of the lens)
• 1. Congenital cataracts
• 2. Congenital glaucoma
• 3. Retinoblastoma.
• 4. Retinal detachment is most commonly due to
retinopathy of prematurity.
• 5. Peters anomaly. Abnormal cleavage of the anterior
chamber occurs from anterior segment dysgenesis.
There is a central, paracentral, or complete corneal
opacity.

• examined the sclera
• color
• White=normal
• blue= prematurity and osteogenesis imperfecta
• yellowish = hyperbilirubinemia
• Hypertelorism (widely spaced eyes). The
interorbital distance is greater than normal. Normal
interorbital distance is 20 mm at birth. This can
occur alone or with other congenital deformities.

XI. Nose
• Note the appearance of the nose.
• Infants are obligate nose breathers; therefore, if they
have bilateral choanal atresia, they will have cyanosis
and severe respiratory distress at rest.
• A. Nasal flaring. Indicative of respiratory distress.
• B. Sniffling/snuffles and discharge. Typical of
congenital syphilis.
• C. Sneezing. This can be a response to bright light or
drug withdrawal.
• D. Dislocated nasal septum.

XII. Mouth.
• Examine the hard and soft palates for evidence of a
cleft palate including submucosal and partial clefts
that can be easily missed.
• Macroglossia. Enlargement of the tongue can be
congenital or acquired. Localized macroglossia is
usually secondary to congenital hemangiomas.
Macroglossia can be seen in Beckwith syndrome
(macroglossia, gigantism, omphalocele, and severe
hypoglycemia), Pompe disease (type II glycogen
storage disease), and hypothyroidism.

• Pierre Robin syndrome????????

XIII. Chest
The chest should be inspected for
• size,
• symmetry, and
• structure.

A small or malformed thorax may result from
pulmonary hypoplasia or neuromuscular disorders.
Chest asymmetry may be caused by an absent
pectoralis muscle (Poland sequence), or result from a
mass or abscess.
Pectus excavatum (funnel chest) or pectus carinatum
(pigeon breast) may occur as an isolated finding, or as
part of congenital syndrome

Barrel chest. Occurs when there is an increased
anteroposterior diameter of the chest.
It can be secondary to
• mechanical ventilation,
• pneumothorax,
• pneumonia, or
• space-occupying lesions.

• Breast —
• Breast size and
• nipple position should be noted.
• The presence and amount of breast tissue may be
helpful in assessment of gestational age.
•
•
• occurring with an incidence of approx

Breast hypertrophy caused by exposure to maternal
hormones occurs in both males and females and can
be asymmetric. Occasionally, breasts will secrete a
thin milky fluid known as "witch's milk" for several
days to weeks
Supernumerary nipple, or accessory mammary
tissue, is a common finding,

Bloody nipple discharge is rare in an infant and can
be seen in breast-fed and formula-fed infants.
Causes can include:-
• benign mammary ductal ectasia (most common),
• ductal hyperplasia caused by maternal hormonal
stimulation (usually not bloody)
• temporarily increased progesterone levels,
• mastitis (bacterial infection),
• possible herbal medication use by the mother, and
• pituitary tumor.

Widely spaced nipples occur in some genetic
syndromes (eg, Turner syndrome). If the nipples appear
to be widely spaced, measurement of the distance
between the nipples should be compared to available
normative data .
 In general, an internipple distance that is >25 percent
of chest circumference is considered wide-spaced.


• Lungs —
• The infant's breathing rate and pattern should be
observed.
• Normal breath sounds are bronchovesicular and
are heard equally on both sides of the chest.

Phonatory abnormalities. Depend on the level of
abnormality or obstruction.
 Phonation is a primary function of the larynx, and an
abnormality of this causes no cry or a weak cry.
Laryngeal obstruction can be supraglottic, glottic, or
subglottic.
• A muffled cry and inspiratory stridor occur with supraglottic
obstruction;
• a high-pitched or absent cry is associated with glottic
abnormalities (laryngeal web or atresia).
• Subglottic stenosis can present with hoarse or weak cry,
stridor, and obstructive breathing.

Stridor. A high-pitched sound on inspiration heard without a
stethoscope.
 It can be normal if it occurs occasionally and there are no other
signs of respiratory distress.
If stridor is persistent, causes can be:-
• laryngomalacia is the most common cause.
• congenital subglottic stenosis,
• vocal cord paresis,
• double aortic arch, and other congenital anomalies.
• NB:- Inspiratory stridor with cyanotic attacks with feeding with
aspiration and pulmonary infections that reoccur can occur with
laryngeal and laryngotracheoesophageal clefts.

• Weak but high-pitched cry resembling a cat. Cri du chat (5p deletion)
syndrome.(has also: microcephaly, hypotonia, neurodevlopmental
delay)
• Whistling noise can occur with a blockage in the nostril.
• Weak cry.: Hypoglycemia.
• Weak cry, mild respiratory distress.; Transient neonatal myasthenia
gravis.
• High-pitched cry.; Neonatal abstinence syndrome or hypoglycemia.
• Hiccups.; Nonketotic hyperglycinemia.
• Hoarse ccry; Hypothyroidism.
• Aphonia in a newborn. Laryngeal web, vocal cord paralysis, tracheal
agenesis (respiratory distress and impossible to intubate).

XIV. Heart
Observe for
• heart rate (normal 110–160 beats/min awake, may
drop to 80 beats/min during sleep),
• rhythm,
• quality of heart sounds,
• precordium activity, and
• presence of a murmur.

The position of the heart may be determined by
auscultation.
 Physical examination alone can miss up to 50% of
cyanotic CCHD, supporting the pulse oximetry
screening

• 1. Ventricular septal defect.
• Typically, a loud, harsh, blowing, pansystolic murmur is
heard (best heard over the lower left sternal border).
• It is not heard at birth but often on day 2 or day 3 of
liover
• Symptoms such as congestive heart failure usually do
not begin until after 2 weeks of age and typically are
present from 6 weeks to 4 months.
• Most of these defects close spontaneously by the end of
the first year of life.

• 2. Patent ductus arteriosus (PDA).
• A harsh, continuous, machinery-type, “washing
machine–like,” or “rolling thunder” murmur that usually
presents on the second or third day of life, localized to
the second left intercostal space.
• It may radiate to the left clavicle or down the left sternal
border.
• It can be heard loudest along the left sternal border. A
hyperactive precordium is also seen.
• Clinical signs include wide pulse pressure and bounding
pulses.

• 3. Coarctation of the aorta.
• A systolic ejection murmur that radiates down the
sternum to the apex and to the interscapular area.
• It is often loudest in the back.
• 4. Peripheral pulmonic stenosis.
• A systolic murmur is heard bilaterally in the anterior
chest, in both axillae, and across the back.
• This usually benign murmur may persist up to 3 months
of age.
• It may also be associated with rubella syndrome.

• 5. Hypoplastic left heart syndrome.
• A short midsystolic murmur usually presents anywhere
from day 1 to 21.
• A gallop is usually heard.
• 6. Tetralogy of Fallot.
• Typically, a loud, harsh systolic or pansystolic murmur
best heard at the left sternal border.
• The second heart sound is single.

• 8. Tricuspid atresia.
• A pansystolic murmur along the left sternal border with a
single second heart sound is typically heard.
• 9. Transposition of the great vessels. More common in
males than females.
• a. Isolated (simple). Cardiac examination is often normal, but
cyanosis and tachypnea are present along with a normal
chest radiograph and electrocardiogram.
• b. With ventricular septal defect. The murmur is loud and
pansystolic and is best heard at the lower left sternal border.
The infant typically has congestive heart failure at 3 to 6
weeks of life.

• 10. Ebstein disease.
• A long systolic murmur is heard over the anterior
portion of the left chest.
• A diastolic murmur and gallop may be present.
• 11. Truncus arteriosus.
• A systolic ejection murmur, often with a thrill, is heard
at the left sternal border.
• The second heart sound is loud and single.
• 12. Single ventricle.
• A loud systolic ejection murmur with a loud single
second heart sound is heard.

• B. Palpate the pulses (femoral, pedal, radial, and
brachial). Bounding pulses can be seen with PDA.
Absent or delayed femoral pulses are associated
with coarctation of the aorta.
• C. Check for signs of congestive heart failure. Signs
may include hepatomegaly, gallop, tachypnea,
wheezes and rales, tachycardia, and abnormal
pulses.

XV. Abdomen
• Observation.
• Obvious birth defects may include
an omphalocele , in which organs (usually stomach,
intestines, liver) covered by peritoneum protrude out of an
opening in the center of the abdomen in the area of the
umbilical cord;
gastroschisis , a defect in the abdominal wall to the right of
the umbilicus in which typically the large and small intestines
(or other organs) not covered by peritoneum protrude out; or
exstrophy of the bladder , in which the bladder protrudes
outward through an absent abdominal wall segment.

• C. Palpation. Check the abdomen for distention, tenderness, or masses.
• The abdomen is most easily palpated when the infant is quiet or during feeding.
• In normal circumstances, the liver can be palpated 1 to 2 cm below the costal
margin and the spleen tip at the costal margin.
• Hepatomegaly can be seen with congestive heart failure, hepatitis, some inborn
errors of metabolism (storage disorders, urea cycle defects), or sepsis.
• Splenomegaly is found with cytomegalovirus or rubella infections or sepsis.
• The lower pole of both kidneys can often be palpated.
• Kidney size may be increased with polycystic disease, renal vein thrombosis, or
hydronephrosis.
• Abdominal masses are more commonly related to the urinary tract.

• Diastasis rectus abdominis.
• A protrusion (vertical bulge) from the xiphoid to the
umbilicus because of the weakness of the fascia between
the 2 rectus abdominis muscles, which causes a separation
of the muscles.
• It can be seen when intraabdominal pressure increases
and is typically a benign finding in newborns and will
resolve with time.

• Prune Belly Syndrome in Children:- is a rare type of birth
defect.
• The defect can range from mild to severe.
• It is also known as triad syndrome or Eagle-Barrett syndrome.
• It includes 3 main problems:
1. Missing muscles or severely weak muscles in the belly
(abdomen)
2. One or both testicles not in the scrotal sac (undescended
testicles)
3. Abnormal, large bladder and problems with the kidneys and the
tubes that lead from the kidneys to the bladder (ureters)
4.

A child with prune belly syndrome often can't fully
empty their bladder. This can cause serious bladder,
ureter, and kidney problems.
A child with prune belly syndrome may also have
other birth defects.
 Most often, these defects affect the skeletal
system, intestines, lungs, and heart. Girls may have
defects in their external genitals.

XVI. Umbilicus
• Normally, the umbilicus has 2 arteries and 1 vein.
• The presence of only 2 vessels (1 artery and 1 vein) could
indicate renal or genetic problems (commonly trisomy 18).
• If there is a single umbilical artery, there is an increased
prevalence of congenital anomalies (40%) and intrauterine
growth restriction and a higher rate of perinatal mortality.
• If it occurs without any other abnormalities, it is usually
benign.
• If the umbilicus is abnormal, ultrasonography of the
abdomen is recommended.

• In addition, inspect for any discharge, redness, or edema
around the base of the cord that may signify a patent urachus
or omphalitis.
• Some amount of periumbilical erythema is considered normal
with separation of the cord.
• The cord should be translucent;
• a greenish yellow color suggests meconium staining, usually
secondary to fetal distress.
• Dark stripes in the cord are intravascular clots and are a
normal finding.
• A normal umbilical cord stump sloughs off at approximately 7
to 10 days of age.

• Patent urachus is a communication between the
bladder and the umbilicus, resulting in urine
coming from the umbilicus.
• Pediatric urology workup is needed to rule out
lower urinary tract obstruction.
• Other urachal abnormalities include urachal cysts
and sinuses.

• Patent omphalomesenteric (vitelline) duct is a
communication between the ileum and the
umbilicus.
• It presents with drainage of enteric contents, often
with a prolapse of the duct and adjacent ileum
from the umbilicus.

XVIII. Anus and rectum.
• Make sure the infant does not have a fistula.
• Meconium should pass within 48 hours of birth for term
infants.
• Premature infants are usually delayed in passing meconium.
• Check for patency of the anus to rule out imperforate anus
(absence of a normal anal opening). Insert a small feeding
tube not >1 cm or observe for passage of meconium.
• Check the position of the anus using the anal position index
(API), and if out of range, consult pediatric surgery.

• Anal position index (API).
• 1. API in females. Measure the distance in
centimeters from the posterior fourchette (thin fold
of skin at the back of the vulva) to the center of the
anus divided by the distance between the
fourchette and the lowermost point of coccyx. The
mean API in term females is 0.45 ± 0.08. Mean ± 2
standard deviations is considered normal.
•

• 2. API in males. Measure ratio of the distance
between the center of the anus and the first scrotal
fold to the distance between the first scrotal fold
and the lowermost point of the coccyx. Mean API in
males is 0.54 ± 0.07 . Mean ± 2 standard
deviations is considered normal.

XVII. Genitalia
• Any infant with a disorder of sex development
(presence of genitalia that do not fit into a male or
female classification; formerly called “ambiguous
genitalia”) should not undergo gender assignment
until a formal endocrinology and urologic evaluation
has been performed
• Note: A male with any question of a penile
abnormality should not be circumcised until he is
evaluated by a pediatric urologist or pediatric
surgeon.

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