Common ocular manifestation in Trisomy 13 is –
Correct Answer: Bilateral microphthalmos
Description: 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
Category:
Pediatrics
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