Premium
Bowen–Conradi syndrome: A clinical and genetic study
Author(s) -
Lowry R.B.,
Innes A.M.,
Bernier F.P.,
McLeod D.R.,
Greenberg C.R.,
Chudley A.E.,
Chodirker B.,
Marles S.L.,
Crumley M.J.,
LoredoOsti J.C.,
Morgan K.,
Fujiwara T.M.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20059
Subject(s) - kinship , natural history , pediatrics , demography , medicine , physics , sociology , political science , law
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. © 2003 Wiley‐Liss, Inc.