This document discusses femoral deficiency, also known as congenital short femur. It begins by outlining general principles for evaluating skeletal dysplasias, including measuring growth proportions. It then describes femoral deficiency, noting that it can range from isolated shortening of the femur to more severe cases involving defects of the proximal femur. The document covers diagnosis of skeletal dysplasias in childhood and adulthood, including clinical features, imaging, family history, and specialized testing. It concludes with discussing general principles for managing skeletal dysplasias, including communication, counseling, maintaining independence, and preventing/correcting deformities.
Perthes disease is a rare childhood condition that affects the hip. It occurs when the blood supply to the rounded head of the femur (thighbone) is temporarily disrupted. Without an adequate blood supply, the bone cells die, a process called avascular necrosis.
Height below 3rd centile or less than 2
standard deviations below the median
height for that age & sex according to
the population standard.
Or
Even if the height is within the normal percentiles but growth velocity is consistently below 25th percentile over 6-12 months of observation
developmentally disabled child
downs syndrome
cerebral palsy
introduction
incidence and prevalance
symptoms
precautions to be taken during treatments or during dental treatment or dental checkup
intra oral symptoms which are more commonly seen in these childrens
these children have early or late erruption of teeth
general manifestation of patients with downs syndrome are brachycephelic skull,flat nose bridge
eyes: oblique palpebral fissure , scanty eye lashes
dysplastic ear
shoert neck
congenital heart disease
dudenal atresia
umblical hernia
oral menifestation : such as drooping mouth , open mouth
protusive fissured tongue
dry fissured lips
retarded erruption of teeth
cerebral palsy : classification
spastic cerebral palsy
athetosis
ataxia
rigidity
tremors
atonia
mixed
dental problems : dental caries
periodontal diseases
malocclusion
bruxism
trauma
treatment of these patients
at last conclusion
referance from shobha tandon (pedodontics)
Perthes disease is a rare childhood condition that affects the hip. It occurs when the blood supply to the rounded head of the femur (thighbone) is temporarily disrupted. Without an adequate blood supply, the bone cells die, a process called avascular necrosis.
Height below 3rd centile or less than 2
standard deviations below the median
height for that age & sex according to
the population standard.
Or
Even if the height is within the normal percentiles but growth velocity is consistently below 25th percentile over 6-12 months of observation
developmentally disabled child
downs syndrome
cerebral palsy
introduction
incidence and prevalance
symptoms
precautions to be taken during treatments or during dental treatment or dental checkup
intra oral symptoms which are more commonly seen in these childrens
these children have early or late erruption of teeth
general manifestation of patients with downs syndrome are brachycephelic skull,flat nose bridge
eyes: oblique palpebral fissure , scanty eye lashes
dysplastic ear
shoert neck
congenital heart disease
dudenal atresia
umblical hernia
oral menifestation : such as drooping mouth , open mouth
protusive fissured tongue
dry fissured lips
retarded erruption of teeth
cerebral palsy : classification
spastic cerebral palsy
athetosis
ataxia
rigidity
tremors
atonia
mixed
dental problems : dental caries
periodontal diseases
malocclusion
bruxism
trauma
treatment of these patients
at last conclusion
referance from shobha tandon (pedodontics)
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Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
2. Introduction
• All the skeletal dysplasias affect growth, although this may
not be obvious at birth
• Children should be measured at regular intervals and a
record kept of
• height,
• length of lower segment (top of pubic symphysis to heel),
• upper segment (pubis to cranium),
• span, head circumference and chest circumference
• Failure to reach the expected height for the local population
group should be noted, and marked shortness of stature is
highly suspicious.
3. • Bodily proportion is as important as overall height. The
normal upper segment:lower segment ratio hanges
gradually from about 1.5:1 at the end of the first year to
about 1:1 at puberty.
• By contrast, small stature with disproportionate shortness of
the limbs is characteristic of skeletal dysplasia, the long
bones being more markedly affected than the axial
skeleton.
4.
5. • The different segments of the limbs also may be
disproportionately affected. The subtleties of dysplastic growth
are reflected in terms such as;
• rhizomelia – unusually short proximal segments (humeri and femora),
• mesomelia – short middle segments (forearms and legs) and
• acromelia – stubby hands and feet.
• Dysmorphism (a misshapen part of the body) is most obvious in
the face and hands. There is a remarkable consistency about
these changes, which makes for a disturbing similarity of
appearance in members of a particular group.
• Local deformities – such as kyphosis, valgus or varus knees,
bowed forearms and ulnar deviated wrists result from disturbed
bone growth
6.
7. Femoral deficiency (congenital
short femur)
• Most benign femoral dysplasia consists merely of shortening of the bone with
a normal hip and knee.
• dealt with limb lengthening procedures or,
• if shortening is very marked, by adding a distal orthosis
• If this is associated with coxa vara, a proximal osteotomy may be needed.
• Dysplasia of the distal third – sometimes with synostosis of the knee
uncommon
• Since hip permits normal weightbearing, this condition also can be managed by limb
lengthening operations
• Proximal femoral dysplasia more common
• and usually much more serious because it presents a twofold problem: shortening of
the limb and defective weightbearing at the hip.
• The most widely used classification of proximal femoral dysplasia Aitklin
8.
9. • Coxa vara with moderate shortening of the shaft dealt by
corrective osteotomy and limb lengthening
• Severe degrees of coxa vara sometimes + pseudoarthrosis of
the femoral neck,
• may result in marked shortening of the femur
• In the worst cases most of the femoral shaft is missing, the knee
is situated at thigh level and the foot hangs where the knee is
normally expected to be.
• If the deformity is bilateral and symmetrical walking is
possible and some individuals acquire remarkable agility;
• however, still seek treatment cosmetic problem.
10.
11.
12. DIAGNOSIS IN CHILDHOOD
Clinical features
• Tell-tale features suggesting skeletal dysplasia are:
• retarded growth and shortness of stature
• disproportionate length of trunk and limbs
• localized malformations (dysmorphism)
• soft-tissue contractures
• childhood deformity
13. X-rays
• The presence of any of the above features calls for a limited
radiographic survey: Chest PA, Pelvis AP, knees and hands,
additional views of one arm and one leg, Thoracolumbar lateral
and standard views of the skull.
• Fractures, bent bones, exostoses, epiphyseal dysplasia and spinal
deformities may be obvious, especially in the older child.
• Sometimes a complete survey is needed and it is important to
note which portion of the long bones (epiphysis, metaphysis or
diaphysis) is affected.
• With severe and varied changes in the metaphyses, periosteal
new bone formation or epiphyseal separation, always consider
the possibility of non-accidental injuries – the ‘battered baby’
syndrome.
14. Special investigations
• In many cases the diagnosis can be made w/o laboratory tests;
• however, routine blood and urine analysis exclude metabolic &
endocrine disorders (rickets, pituitary,
thyroid dysfunction)
• Special tests are also available to identify specific excretory
metabolites in the storage disorders, and specific enzyme activity
can be measured in serum, blood cells or cultured fibroblasts.
• Bone biopsy disorders of bone density
• Direct testing for gene mutations is already available for a number of
conditions and is rapidly being extended to others.
• Useful adjunct to clinical diagnosis.
• Controversial is its application to pre-clinical diagnosis of late-onset
disorders and neonatal screening for potentially dangerous conditions such
as sickle-cell disease
15. Previous medical history
• Always ask whether the mother was exposed to teratogenic
agents (x-rays, cytotoxic drugs or virus infections) during the
early months of pregnancy
16. The family history
• A careful family history should always be obtained. This
should include information about;
• similar disorders in parents and close relatives,
• previous deaths in the family (and the cause of death),
• abortions and;
• consanguineous marriages.
• However, the fact that parents or relatives are said to be
‘normal’ does not exclude the possibility that they are either
very mildly affected or have a biochemical defect without any
physical abnormality.
17. • Many developmental disorders have characteristic patterns
of inheritance which may be helpful in diagnosis
• Racial background is sometimes important: some diseases
are particularly common in certain communities, for
example, sickle-cell disease in Negroid peoples and
Gaucher’s disease in Ashkenazi Jews.
18. DIAGNOSIS IN ADULTHOOD
• It is unusual for a patient to present in adulthood with a condition that has
been present since birth but in milder cases the abnormality may not have
been recognized, particularly when several members of the family are
similarly affected.
• In the worst of the genetic disorders the fetus is still-born or survives for only
a short time.
• Individuals who reach adulthood, though recognizably abnormal, may lead
active lives, marry and have children of their own. Nevertheless, they often
seek medical advice for several reasons:
• short stature – especially disproportionate shortness of the lower limbs
• local bone deformities or exostoses
• spinal stenosis
• repeated fractures
• secondary osteoarthritis (e.g. due to epiphyseal dysplasia)
• joint laxity or instability.
• The clinical approach is similar to that employed with children.
19. • Unilateral deformities are not only unsightly but also very disabling.
• Effective limb lengthening is out of the question, and fitting a prosthesis
to a short limb with flexion deformities of the ‘hip’ and knee and a foot
jutting forwards where the knee-hinge of the prosthesis will lie is a
daunting prospect.
20. PRINCIPLES OF MANAGEMENT
• Management of the individual patient depends on the
diagnosis, the pattern of inheritance, the type and severity of
deformity or disability, mental capacity and social aspirations.
However, it is worth noting some general principles
21. Communication
• Explain as much as possible to the patient/the parents w/o
causing unnecessary distress.
• Rare developmental disorders are best treated in a centre
that offers a ‘special interest’ team :
• paediatrician,
• medical geneticist,
• orthopaedic surgeon,
• psychologist,
• social worker,
• occupational therapist,
• orthotist and prosthetist
22. Counselling
• Patients and families may need expert counselling
about:
• (1) the likely outcome of the disorders;
• (2) what will be required of the family; and
• (3) the risk of siblings or children being affected. Where there are
severe deformities or mental disability, the entire family may need
counselling
23. Maintaining an independent lifestyle
• Parents are often anxious about having their child grow up as ‘normal’ as
possible, yet ‘normality’ may mean something different for the child
• For example, it is expected that children will become independently
mobile only by learning to walk in a safe and effective manner, but some
children with genetic disorders may be equally independently mobile
with the use of a wheelchair.
• Management must be influenced by goals for adult life and not just the
short-term goals of childhood
24. Prevention and correction of deformities
• In recent years, with advances in methods of limb
lengthening, many short-limbed patients have
benefited from this operation; however, the risks
should be carefully explained and the expected
benefits should not be exaggerated.
25.
26.
27. • In the past there was some enthusiasm for the Van Nes operation: fusion of
the knee and 180 degree rotational osteotomy of the leg bones to get the
foot facing back-to-front and the ankle substituting for the knee, followed by
fitting an ‘above-knee’ prosthesis.
• However, the trick is easier, and looks better, in drawings than in real life and
the procedure is seldom done nowadays.