In Down syndrome

Down syndrome:- Trisomy 21 Patients with down syndrome have mental and physical retardation, flat facial profile, an upward slant of eyes and epicanthic folds. Oblique palpebrak fissure seen. Nose is small with flat nasal bridge. Mouth shows narrow sho palate with small teeth and furrowed protruding tongue. There is significant hypotonia. Skull appears small and brachycephalic with flat occiput . Ears are small and dysplastic. Characteristic facial grimace on crying. Hands are sho and broad. Clinodactyly( hypoplasia of middle phalanx of fifth finger) and simian crease are usual. There is wide gap between the first and second toe( Sandle gap). Associated anomalies:- 1. Congenital hea disease- ventricular septal defect. 2. Gastrointestinal - atresia, annular pancreas and Hirschsprung disease. 3. Ophthalmic- cararact, nystagmus, squint. 4. Thyroid dysfunction 5. Conductive hearing loss Best serological marker for down syndrome is Beta HCG. Reference: GHAI Essential pediatrics, eighth edition