CRANIOSYNOSTOSIS AND KIDNEY MALFORMATION IN A CASE OF HENNEKAM SYNDROME

被引:20
作者
CORMIERDAIRE, V
LYONNET, S
LEHNERT, A
MARTIN, D
SALOMON, R
PATEY, N
BROYER, M
RICOUR, C
MUNNICH, A
机构
[1] HOP NECKER ENFANTS MALAD,INSERM,U393,UNITE RECH HANDICAPS GENET ENFANT,F-75743 PARIS,FRANCE
[2] HOP NECKER ENFANTS MALAD,SERV ANAT PATHOL,PARIS,FRANCE
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 57卷 / 01期
关键词
LYMPHANGIECTASIA; AUTOSOMAL RECESSIVE INHERITANCE; FACIAL ANOMALIES;
D O I
10.1002/ajmg.1320570115
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Hennekam syndrome is a rare autosomal recessive syndrome which was described for the first time in 1989. Here, we present a girl with intestinal lymphangiectasia, severe lymphedema of limbs, seizures, mild mental retardation, and facial anomalies consistent with the diagnosis of Hennekam syndrome, In addition, she had an ectopic kidney and craniosynostosis of the coronal suture, 2 manifestations not previously reported in this syndrome, While the molecular basis of Hennekam syndrome remains, as yet, unknown, this report illustrates its variable clinical expression. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:66 / 68
页数:3
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