ADDITIONAL CASE OF OPSISMODYSPLASIA SUPPORTING AUTOSOMAL RECESSIVE INHERITANCE

Authors
BEEMER FA KOZLOWSKI KS
Citation
Fa. Beemer et Ks. Kozlowski, ADDITIONAL CASE OF OPSISMODYSPLASIA SUPPORTING AUTOSOMAL RECESSIVE INHERITANCE, American journal of medical genetics, 49(3), 1994, pp. 344-347
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
49
Issue
3
Year of publication
1994
Pages
344 - 347
Database
ISI
SICI code
0148-7299(1994)49:3<344:ACOOSA>2.0.ZU;2-G
Abstract
The authors describe clinical and radiological findings in a a-year-ol d bay from consanguineous parents. A diagnosis of opsi(s)modysplasia ( = delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations . Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transm ission. (C) 1994 Wiley-Liss, Inc.