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Infant with multiple congenital anomalies and deletion (9)(q34.3)
L A Schimmenti1, S A Berry, M Tuchman
1Department of Pediatrics, University of Minnesota, Minneapolis 55455.
American Journal of Medical Genetics
|June 1, 1994
Abstract:
We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.