Bowen-Conradi syndrome: A clinical and genetic study

被引：24

作者：

Lowry, RB

Innes, AM

Bernier, FP

McLeod, DR

Greenberg, CR

Chudley, AE

Chodirker, B

Marles, SL

Crumley, MJ

Loredo-Osti, JC

Morgan, K

Fujiwara, TM

机构：

[1] Alberta Childrens Prov Gen Hosp, Dept Med Genet, Calgary, AB T2T 5C7, Canada

[2] Univ Calgary, Calgary, AB, Canada

[3] Univ Manitoba, Dept Paediat & Child Hlth, Winnipeg, MB, Canada

[4] Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB, Canada

[5] McGill Univ, Res Inst, Ctr Hlth, Montreal, PQ, Canada

[6] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[7] McGill Univ, Dept Med, Montreal, PQ, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 120A卷 / 03期

关键词：

prenatal-postnatal growth retardation; psychomotor retardation; microcephaly; flexion contractures; Hutterite; autosomal recessive; COFS; trisomy; 18;

D O I：

10.1002/ajmg.a.20059

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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. (C) 2003 Wiley-Liss, Inc.

引用

页码：423 / 428

页数：6

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