SIMPSON-GOLABI-BEHMEL SYNDROME - AN X-LINKED ENCEPHALO-TROPHO-SCHISIS SYNDROME
SIMPSON-GOLABI-BEHMEL SYNDROME - AN X-LINKED ENCEPHALO-TROPHO-SCHISIS SYNDROME
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DOI：
10.1002/ajmg.1320300130
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发表时间：
1988-05-01
期刊：
影响因子：
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通讯作者：
OPITZ, JM
中科院分区：
文献类型：
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作者：
NERI, G;MARINI, R;OPITZ, JM
我们报道了另一个患有所谓“巨人症发育不良综合征”的家庭，这是一种 X 连锁疾病，其特征是出生前和产后过度生长、特征性面部明显粗糙、多个组织发生发育不良变化以及轻度智力障碍。这种情况被称为戈拉比-罗森综合征。然而，我们同意这与 Simpson 等人于 1975 年和 Behmel 等人于 1984 年以较温和的形式描述的实体相同。因此，我们建议将该实体命名为 Simpson-Golabi-Behmel 综合征。受影响个体的表现表明这种情况代表一种 X 连锁脑营养分裂综合征。
We report on another family with the so-called “gigantism-dysplasia syndrome”, an X-linked condition characterized by pre-and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al in 1975 and by Behmel et al in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.