Beruflich Dokumente
Kultur Dokumente
DEFINITION:
• The study of human congenital
malformations that originate
before birth & particularly
those affecting the anatomy
of the individual
PATHOGENETIC
MECHANISM:
1. Malformation:
Morphologic defect of an organ, part of an organ,
due to intrinsic abnormal developmental process.
According to:
a) Affection of body function minor/major
b) Number in an individual single(isolated)/multiple
E.g: - cleft palate/lip
- cardiac septal defect (VSD, ASD)
- neural tube defects(anancephaly/lumbo-sacral
meningomyelocele)
2. Deformation:
Abnormal form, shape/ position of part of the body
which has differentiated normally
Caused by mechanical forces (extrinsic defect)
E.g: - talipes equinovarus
- developmental dislocation of hip (DDH)
General features :
Head – brachycephalic, microcephaly, silky
hair, wide ant. fontanelle
Eyes – upward slanting, narrow palpebral
fissure, med.epichanthic fold, hypertelorism,
brush field spots iris, nystagmus, cataract.
Ears – small, backward displacement, low set.
Nose – small, depressed nasal-bridge.
• Tongue – protruded. Fissured
• Mandible – micrognathia
• Neck – short, webbed
• Abdomen (10%) – cong.megacolon, imperforate
anus, umbilical hernia, duodenal atresia
• CHD (50%) – AVCD, VSD
• Hands – brachydactyly (short, broad), clinodactyly
(incurved little finger), simian crease (single
transverse palmer crease
• Feet – wide space between big toe and second
toe, syndal line (deep platar crease)
• Genitals – poorly developed
Trisomy 21
TURNER’S SYNDROME
• Sex chromosomal aberrations (monosomy X) (45, X)
• Incidence 1:5000
• C/p :
Short stature
Mental subnormality (IQ-high levels)
Face – hypertolerism, epichantic fold, narrow maxilla,
small mandible, low set ears.
Neck – webbed
Wide space nipples.
Extremities – cuitus vulgus, lymphadema of dorsum of
foot and hands (infancy)
CHD (35%) – COARC
Cong.renal disease
Infertility due to ovarian dysgenesis.
Noonan Syndrome
Definition
• Genetic disorder that prevents normal development in various
parts of the body.
Clinical Approach
1. Face
- Hypertelorism - Down-slanting eyes
- Webbed neck - Wide forehead & small
chin
2. Eyes
- Strabismus - Refractive errors
- Ambylopia & ptosis - Nystagmus
3. Musculoskeletal
- Pectus deformity - Cubitus vulgus
- Broad thorax with wide spaced nipple
Achondroplasia
Definition
• Bone growth disorder that causes disproportionate
dwarfism with nomal torso and short limbs.
Clinical Approach
1. Infants & Children
- Hydrocephalus - Kyphosis
- Hypotonia - Sleep apnea
- Otitis media
2. Adults
- Kyphosis, lordosis, scoliosis - Bowed legs
- Recurrent ear infections - Short arms & legs
- Difficulty in bending elbows - Spinal stenosis
FETAL ALCOHOL SYNDROME
Group of signs and symptoms appear in a baby whose mother drank alcohol during
pregnancy
CLINCAL FEATURES :
Pre/post natal growth deficiency
Microcephaly
Hypotonia Moderate MR
GOLDENHAR SYNDROME
(Facio-Auriculo-Vertebral Spectrum)
CLINICAL FEATURES :
Epibulbar
Micrognathia Macrostomia
dermoids
C-spine
Colobomas
anomalies
HOLT-ORAM SYNDROME
(Heart and Hand syndrome)
Inherited autosomal dominant trait due to mutation in transcription factor called TBX5
• CLINICAL FEATURES :
• THUMB
• CHD • Radial DEFECTS
(ASD>>VSD) defects (triphalangeal,
hypoplastic,
absent)
SYNDROMES ASSOCIATIONS
Clinical Approach
1. Small VSD
- Asymptomatic
2. Moderate or large VSD
- Tachypnea & tachycardia - Poor weight
gain
- Feeding difficulties - Hepatomegally
- Recurrent respiratory infection - Excessive sweating
- Murmur
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