HIRSCHSPRUNG DISEASE, UNUSUAL FACE, MENTAL-RETARDATION, EPILEPSY, AND CONGENITAL HEART-DISEASE - GOLDBERG-SHPRINTZEN SYNDROME

被引：22

作者：

TANAKA, H ^{[1
]}

ITO, J ^{[1
]}

CHO, K ^{[1
]}

MIKAWA, M ^{[1
]}

机构：

[1] KITAMI RED CROSS HOSP,DEPT PEDIAT,KITAMI,HOKKAIDO,JAPAN

来源：

PEDIATRIC NEUROLOGY | 1993年 / 9卷 / 06期

关键词：

D O I：

10.1016/0887-8994(93)90029-C

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 5-year-old girl with Hirschsprung disease, unusual facial appearance, psychomotor retardation, epilepsy, and congenital heart disease is reported. Patients with similar clinical features have been reported and they appear to exhibit the recently identified Goldberg-Shprintzen syndrome. It is believed that this girl also exhibits this new syndrome. Cranial computed tomography demonstrated abnormal findings that may suggest defective neuronal migration and/or dysgenesis of the brain. These findings were considered to cause psychomotor retardation and epilepsy in this patient.

引用

页码：479 / 481

页数：3

共 6 条

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[2]

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