Neri G, Marini R, Cappa M, Borrelli P, Opitz J M
Istituto di Biologia e Genetica, Università G. D'Annunzio, Italy.
Am J Med Genet. 1988 May-Jun;30(1-2):287-99. doi: 10.1002/ajmg.1320300130.
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.
我们报告了另一个患有所谓“巨人症-发育异常综合征”的家族，这是一种X连锁疾病，其特征为出生前和出生后的过度生长、具有明显粗糙感的特征性面容、多个组织的发育异常改变以及轻度智力障碍。这种疾病曾被称为戈拉比-罗森综合征；然而，我们认为它与1975年辛普森等人以及1984年贝梅尔等人以较轻形式描述的是同一实体。因此，我们建议将这个实体命名为辛普森-戈拉比-贝梅尔综合征。受影响个体的表现表明，这种疾病代表一种X连锁脑-营养-裂隙综合征。
