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Pediatrics General e996334a

All the following are features of Down's syndrome except –

A
Brushfield's spots in iris
B
Simian crease
C
Mental retardation
D
Hypertonicity
High-Yield Explanation
Clinical features of Down's syndrome A most striking feature in the neonate is hypotonia and although the diagnosis is usually evident at this time, it may sometimes be missed if the baby is very premature or his facial features are concealed by ventilatory apparatus. CLINICAL FEATURES IN DOWN SYNDROME General Neonatal hypotonia Mild-moderate mental retardation Short Stature Cranio-facial Brachycephaly Clinodactyly Epicanthic folds Protruding tongue Small ears Upward sloping palpebral fissures Strabismus and/or nystagmus Brushfield spots in the iris Increased incidence of leukaemia (1%) Limbs Fifth finger clinodactyly Single palmar crease (simian crease) The wide gap between first and second toes Other Congenital heart disease (40%) e.g. common atrioventricular canal, ASD, PDA, VSD, Fallot tetralogy Anal atresia & Hirschsprung disease Duodenal atresia & annular pancreas Hypothyroidism & DM Delayed fontanel closure Three fontanel Obesity & obstructive sleep apnea

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