6 ADDITIONAL CASES OF THE KBG-SYNDROME - CLINICAL REPORTS AND OUTLINE OF THE DIAGNOSTIC-CRITERIA

被引：30

作者：

ZOLLINO, M

BATTAGLIA, A

DAVANZO, MG

DELLABRUNA, MM

MARINI, R

SCARANO, G

CAPPA, M

NERI, G

机构：

[1] UNIV PISA,IST SCI STELLA MARIS,IST NEUROPSICHIAT & PSICOPEDAGOG ETA EVOLUT,PISA,ITALY

[2] OSPED G MOSCATI,CTR MED GENET,AVELLINO,ITALY

[3] OSPED BAMBINO GESU,IST RIC SCI,SERV ENDOCRINOL,ROME,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 03期

关键词：

KBG SYNDROME; PHENOTYPIC PENETRANCE; MACRODONTIA; SYNDACTYLY; MULTIPLE CONGENITAL ANOMALIES MENTAL RETARDATION SYNDROME;

D O I：

10.1002/ajmg.1320520310

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A diagnosis of KBG syndrome was made in six unrelated patients. They presented with slight mental retardation, macrodontia, and skeletal abnormalities. Microcephaly, short stature, facial anomalies, and syndactylies were also noted. The diagnostic criteria of the KBG syndrome are discussed. (C) 1994 Wiley-Liss, Inc.

引用

页码：302 / 307

页数：6