Bowen-Conradi syndrome: a clinical and genetic study.

Abstract

The purpose of the study was to delineate the anomalies and the natural life history of persons with the Bowen-Conradi syndrome [Bowen and Conradi 1976: Birth Defects: Orig Artic Ser XII(6):101-108]. We ascertained 39 cases and personally examined almost all. For those who were not seen, their clinical record were scrutinized. Pedigree analysis of all 39 was done and kinship coefficients computed. The birth prevalence was estimated to be 1/355 live births.

• Authors: R B Lowry, A M Innes, F P Bernier, D R McLeod, C R Greenberg, A E Chudley, B Chodirker, S L Marles, M J Crumley, J C Loredo-Osti, K Morgan, T M Fujiwara
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 120A Issue 3 Pg. 423-8 (Jul 30 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12838567 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Topics

• Craniofacial Abnormalities (genetics, physiopathology)
• Female
• Fetal Growth Retardation (genetics, physiopathology)
• Humans
• Karyotyping
• Male
• Pedigree
• Psychomotor Disorders (genetics, physiopathology)