A baby presents with multiple deformities, cleft lip, cleft palate, microcephaly, small eyes, scalp defect and polydactyly. Following manifestations are associated with which of the following chromosomal anomaly?
Correct Answer: Trisomy 13
Description: The baby in the question stem is showing features of trisomy 13. Babies with trisomy 13 often have normal bih weight, CNS malformations, eye malformations, cleft lip and palate, polydactyly or syndactyly, and congenital hea disease. Infants with trisomy 18 are small for gestational age, have characteristic facies, overlapping fingers and rocker bottom feet and ventricular septal defect or patent ductus aeriosus. Physical findings in a newborn with trisomy 21 are flattened occiput, upslanting palpebral fissures, epicanthal folds, midface hypoplasia, small dysplastic pinnae, endocardial cushion defects or other septal defects and esophageal and duodenal atresias. Ref: Tsaic A.C., Manchester D.K., Elias E.R. (2012). Chapter 37. Genetics & Dysmorphology. In W.W. Hay, Jr., M.J. Levin, R.R. Deterding, J.J. Ross, J.M. Sondheimer (Eds), CURRENT Diagnosis & Treatment: Pediatrics, 21e.
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