Bowen-Conradi syndrome: a clinical and genetic study

Am J Med Genet A. 2003 Jul 30;120A(3):423-8. doi: 10.1002/ajmg.a.20059.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / physiopathology*
  • Female
  • Fetal Growth Retardation / genetics
  • Fetal Growth Retardation / physiopathology*
  • Humans
  • Karyotyping
  • Male
  • Pedigree
  • Psychomotor Disorders / genetics
  • Psychomotor Disorders / physiopathology*