DIFFUSE POLYMICROGYRIA ASSOCIATED WITH AN UNUSUAL PATTERN OF MULTIPLECONGENITAL-ANOMALIES INCLUDING TURRIBRACHYCEPHALY AND HYPOGENITALISM

Authors
COHN RD GILLESSENKAESBACH G DOBYNS WB KAHN T LENARD HG VOIT T
Citation
Rd. Cohn et al., DIFFUSE POLYMICROGYRIA ASSOCIATED WITH AN UNUSUAL PATTERN OF MULTIPLECONGENITAL-ANOMALIES INCLUDING TURRIBRACHYCEPHALY AND HYPOGENITALISM, American journal of medical genetics, 63(1), 1996, pp. 314-317
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
63
Issue
1
Year of publication
1996
Pages
314 - 317
Database
ISI
SICI code
0148-7299(1996)63:1<314:DPAWAU>2.0.ZU;2-1
Abstract
A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenit al anomalies including microbrachycephaly, turricephaly, blepharophimo sis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance, The combination of manifestations in our pati ent represents a unique form of polymicrogyria with congenital anomali es, probably representing a new syndrome. (C) 1996 Wiley-Liss, Inc.