The KBG syndrome

被引：16

作者：

Smithson, SF ^{[1
]}

Thompson, EM

McKinnon, AG

Smith, IS

Winter, RM

机构：

[1] Bristol Childrens Hosp, Inst Child Hlth, Dept Clin Genet, Bristol BS2 8BJ, Avon, England

[2] Womens & Childrens Hosp, Dept Med Genet, N Adelaide, SA 5006, Australia

[3] Paragon Ctr, Modbury, SA 5092, Australia

[4] Womens & Childrens Hosp, Paediat Dent Unit, N Adelaide, SA 5006, Australia

[5] Inst Child Hlth, Mothercare Unit Clin Genet, London WC1N 1EH, England

来源：

CLINICAL DYSMORPHOLOGY | 2000年 / 9卷 / 02期

关键词：

KBG syndrome; short stature; macrodontia;

D O I：

10.1097/00019605-200009020-00002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on two boys with a combination of short stature, a broad face, macrodontia and developmental delay. These features suggest that they have the KBG syndrome, a rare but distinctive phenotype. The pattern of inheritance remains uncertain and both autosomal dominant and X-linked recessive inheritance should be considered in genetic counselling. Clin Dysmorphol 9: 87-91 (C) 2000 Lippincott Williams & Wilkins.

引用

页码：87 / 91

页数：5