CLINICAL VARIABILITY WITHIN BRACHMANN-DELANGE SYNDROME - A PROPOSED CLASSIFICATION-SYSTEM

被引:63
作者
VANALLEN, MI
FILIPPI, G
SIEGELBARTELT, J
YONG, SL
MCGILLIVRAY, B
ZUKER, RM
SMITH, CR
MAGEE, JF
RITCHIE, S
TOI, A
REYNOLDS, JF
机构
[1] UNIV BRITISH COLUMBIA,BRITISH COLUMBIA CHILDRENS HOSP,DEPT PATHOL,VANCOUVER V6T 1W5,BC,CANADA
[2] SHODAIR CHILDRENS HOSP,DEPT MED GENET,HELENA,MT
[3] UNIV TORONTO,HOSP SICK CHILDREN,DEPT PATHOL,TORONTO M5G 1X8,ONTARIO,CANADA
[4] UNIV TORONTO,HOSP SICK CHILDREN,DEPT MED GENET,TORONTO M5G 1X8,ONTARIO,CANADA
[5] UNIV TORONTO,HOSP SICK CHILDREN,DEPT PLAST SURG,TORONTO M5G 1X8,ONTARIO,CANADA
[6] UNIV TORONTO,TORONTO GEN HOSP,DEPT PATHOL,TORONTO M5G 1L7,ONTARIO,CANADA
[7] UNIV TORONTO,TORONTO GEN HOSP,DEPT ULTRASOUND,TORONTO M5G 1L7,ONTARIO,CANADA
[8] UNIV TRIESTE,DEPT MED GENET,I-34127 TRIESTE,ITALY
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 07期
关键词
BRACHMANN-DELANGE SYNDROME; DELANGE SYNDROME; DELANGE; CORNELIA SYNDROME; CLASSIFICATION; PRENATAL DIAGNOSIS; FAMILIAL RECURRENCE;
D O I
10.1002/ajmg.1320470704
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Seven patients, including two sibs, with the Brachmann-de Lange syndrome (BDLS) are presented as representative of the different types of BDLS in a proposed classification system. Type I (''classic'') patients have the characteristic facial and skeletal changes of BDLS using the criteria in the diagnostic index of Preus and Rex. Type I is distinguished from the other subtypes by prenatal growth deficiency (< 2.5 S.D. below mean for gestation) becoming more severe postnatally (< 3.5 S.D. below the mean), moderate to profound psychomotor retardation, and major malformations which result in severe disability or death. Type II (''mild'') BDLS patients have similar facial and minor skeletal abnormalities to those seen in type I; however, these changes may develop with time or may be partially expressed. Patients with type II BDLS are distinguished from those with other types by mild to borderline psychomotor retardation, less severe pre- and postnatal growth deficiency, and the absence of (or loss severe) major malformations. Behavioral problems can be a significant clinical problem in type II BDLS. Type III (''phenocopies'') BDLS includes patients who have phenotypic manifestations of BDLS which are causally related to chromosomal aneuploidies or teratogenic exposures. (C) 1993 Wiley-Liss, Inc.
引用
收藏
页码:947 / 958
页数:12
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