A infant with cleft lip, cleft palate, polydactyly, microcephaly with holoprosencephaly, ectodermal scalp defect is suffering from:
Correct Answer: Trisomy 13
Description: The incidence of trisomy 13 is about 1:12,000 live bihs, and 60% of affected individuals are female. Most infants with trisomy 13 have congenital anomalies that are incompatible with survival. Surviving children demonstrate failure to thrive, cognitive disabilities, apneic spells, seizures, and deafness. The symptoms and signs include characteristic features, often a normal bih weight, CNS malformations, eye malformations, cleft lip and palate, polydactyly or syndactyly, and congenital hea disease. The incidence of trisomy 18 syndrome is about 1:4000 live bihs, and the ratio of affected males to females is approximately 1:3. Trisomy 18 is characterized by prenatal and postnatal growth retardation that is often severe, and hypeonicity. Complications are related to associated bih defects. Death is often caused by hea failure or pneumonia and usually occurs in infancy or early childhood, although a small percentage of patients reach adulthood. Characteristic features of Trisomy 21 include upslanting palpebral fissures, epicanthal folds, midface hypoplasia, and small, dysplastic pinnae. Characteristic features of Turner syndrome (Monosomy X) include webbed neck, triangular facies, sho stature, wide-set nipples, amenorrhea, and absence of secondary sex characteristics. 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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Pediatrics
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