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Pediatrics Genetics And Genetic Disorders d23d4f91

Simian crease is seen in which syndrome?

A
Reye's syndrome
B
Cat eye syndrome
C
Down's syndrome
D
Patau syndrome
High-Yield Explanation
Ans. is 'c' i.e., Down's syndrome * Single palmar crease (simian crease) is seen in Down's syndromeClinical features of Down's syndrome* 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.* Other clinical features include1) GeneralMental retardation, short stature2) Cranio-facialBrachycephaly, epicanthic fold, protruding tongue, small ears, upward sloping palpebral fissures (Mongoloid slant), strabismus, nystagmus, Brushfied spots in iris.3) LimbsFifth finger clinodactyly, single palmar crease (simian crease), wide gap between first and second toes (sandle gap).4) Congenital heart disease Common AV canal, ostium primum/endocardial cushion defect type ASD (most common), VSD, PDA, fallot tetralogy.5) GITAnal atresia, Duodenal atresia, Hirschsprung disease, annular pancreas .6) Increased incidence of leukemia (1%). Leukemias common are ALL (most common), AML (M7-AML) transient myeloproliferative disorders, and Juvenil CML.7) Others : Early onset of Alzheimer's disease, Decreased immunity with recurrent infections, obesity, DM, Hypothyroidism (most common endocrine abnormality).

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