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.

引用

页码：605 / 606

页数：2

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