INFANT WITH MULTIPLE CONGENITAL-ANOMALIES AND DELETION (9)(Q34.3)

Authors
SCHIMMENTI LA BERRY SA TUCHMAN M HIRSCH B
Citation
La. Schimmenti et al., INFANT WITH MULTIPLE CONGENITAL-ANOMALIES AND DELETION (9)(Q34.3), American journal of medical genetics, 51(2), 1994, pp. 140-142
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
51
Issue
2
Year of publication
1994
Pages
140 - 142
Database
ISI
SICI code
0148-7299(1994)51:2<140:IWMCAD>2.0.ZU;2-7
Abstract
We report on a male infant with developmental delay growth failure, hy potonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-s lanting 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. (C) 1994 Wiley-Liss, Inc.