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
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
收藏
页码:87 / 91
页数:5
相关论文
共 11 条
[1]  
Devriendt K, 1998, GENET COUNSEL, V9, P191
[2]  
FRYNS JP, 1984, CLIN GENET, V26, P69
[3]  
HERMAN J, 1975, BIRTH DEFECTS-ORIG, V11, P7
[4]  
Novembri A, 1983, Arch Putti Chir Organi Mov, V33, P423
[5]  
PARLOIR C, 1977, CLIN GENET, V12, P263
[6]   AARSKOG SYNDROME [J].
PORTEOUS, MEM ;
GOUDIE, DR .
JOURNAL OF MEDICAL GENETICS, 1991, 28 (01) :44-47
[7]  
RiveraVega MR, 1996, CLIN GENET, V50, P278
[8]  
SOEKARMAN D, 1994, CLIN GENET, V46, P283
[9]  
Tollaro I, 1984, Minerva Stomatol, V33, P437
[10]  
WINTER R, 1998, LONDON DYSMORPHOLOGY