A JAPANESE PATIENT WITH THE COSTELLO SYNDROME

被引：0
|
作者：
OKAMOTO, N [1 ]
CHIYO, HA [1 ]
IMAI, K [1 ]
OTANI, K [1 ]
FUTAGI, Y [1 ]
机构：
[1] OSAKA MED CTR & RES INST MATERNAL & CHILD HLTH,DIV PEDIAT NEUROL,IZUMI,OSAKA 59002,JAPAN
来源：
HUMAN GENETICS | 1994年 / 93卷 / 05期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The Costello syndrome is characterized by dwarfism, unique cutaneous lesions, distinct facial gestalt, and mental retardation. We present a Japanese patient with the Costello syndrome. She showed high serum IgM level during the early infantile period. Nissen's fundplication was carried out to treat severe gastroesophageal reflux. Endocrinological investigations revealed a partial deficiency of growth hormone.
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收藏
页码：605 / 606
页数：2
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