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Infant with multiple congenital anomalies and deletion (9)(q34.3).

作者信息

Schimmenti L A, Berry S A, Tuchman M, Hirsch B

机构信息

Department of Pediatrics, University of Minnesota, Minneapolis 55455.

出版信息

Am J Med Genet. 1994 Jun 1;51(2):140-2. doi: 10.1002/ajmg.1320510211.

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.

摘要

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