NEVO SYNDROME

被引：4

作者：

HILDERINK, BGM

BRUNNER, HG

机构：

[1] UNIV NIJMEGEN HOSP, DEPT HUMAN GENET, 6500 HB NIJMEGEN, NETHERLANDS

[2] UNIV NIJMEGEN HOSP, DEPT PEDIAT, 6500 HB NIJMEGEN, NETHERLANDS

来源：

CLINICAL DYSMORPHOLOGY | 1995年 / 4卷 / 04期

关键词：

NEVO SYNDROME; OVERGROWTH; HYPOTONIA; AUTOSOMAL RECESSIVE; CONSANGUINITY; KYPHOSIS;

D O I：

10.1097/00019605-199510000-00007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a male patient born to consanguineous parents with a syndrome of tall stature at birth, hypotonia, wrist drop and long spindle shaped fingers. The clinical features are identical to those previously described in three cases from a single family by Nevo et al. (1974: J Med Genet 11: 158-165). Autosomal recessive inheritance is supported by consanguinity in our case. Follow-up at age 3 years demonstrated significant improvement of hypotonia and motor function, and normal cognitive ability.

引用

页码：319 / 323

页数：5