MULTIPLE LATERAL MENINGOCELES, DISTINCTIVE FACIES AND SKELETAL ANOMALIES - A NEW CASE OF LEHMAN SYNDROME

被引：26

作者：

PHILIP, N

ANDRAC, L

MONCLA, A

SIGAUDY, S

ZANON, N

LENA, G

CHOUX, M

机构：

[1] HOP ENFANTS LA TIMONE,DEPT MED GENET,F-13385 MARSEILLE 5,FRANCE

[2] HOP ENFANTS LA TIMONE,DEPT PEDIAT NEUROSURG,F-13385 MARSEILLE 5,FRANCE

[3] HOP ENFANTS LA TIMONE,DEPT PATHOL,F-13385 MARSEILLE 5,FRANCE

来源：

CLINICAL DYSMORPHOLOGY | 1995年 / 4卷 / 04期

关键词：

LATERAL MENINGOCELES; DURAL ECTASIA; OSTEOSCLEROSIS;

D O I：

10.1097/00019605-199510000-00011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a 19-year-old boy who presented with facial dysmorphism, multiple lateral meningoceles, skeletal abnormalities and normal intelligence. Neurofibromatosis and Marfan syndrome were excluded. Electron microscopy of the skin showed non-specific abnormalities suggesting a connective tissue disorder. The features of this boy closely resemble those in a mother and daughter with Lehman syndrome.

引用

页码：347 / 351

页数：5