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Pediatrics General a4ae3644

Common ocular manifestation in Trisomy 13 is –

A
Capillary hemangioma
B
Bilateral microphthalmos
C
Neurofibroma
D
Dermoid cyst
High-Yield Explanation
Cleft lip, cleft palate, scalp defects suggest Trisomy 13 or patau syndrome. Trisomy 13 and Trisomy 18 share several clinical features. The highest discriminatory values are for ectodermal scalp defects and harelip and cleft palate in trisomy 13 and elongated skull and simple arches on all digits for trisomy 18.  Trisomy 13 (Patau syndrome) Cleft lip often midline Flexed-fingers with polydactyly Ocular hypotelorism Bulbous nose Low set malformed ears Small abnormal skull Cerebral malformation especially holoprosencephaly Microophthalmia Cardiac malformations Scalp defects Hypoplastic or absent ribs Visceral and genital anomalies Trisomy 18 (Edward syndrome)  Low birth weight Closed fists with index finger overlapping the 3rd digit and the 5th digit overlapping the 4th. Narrow hips with limited abduction Short sternum Rocker bottom feet Microcephaly Prominent occiput Micrognathia Cardiac and renal malformations Mental retardation 15% cases are lethal in 1st year

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