Teebi A S, Sundareshan T S, Hammouri M Y, al-Awadi S A, al-Saleh Q A
Kuwait Medical Genetics Centre, Maternity Hospital.
Am J Med Genet. 1989 Aug;33(4):479-82. doi: 10.1002/ajmg.1320330413.
Most reported cases of Weaver syndrome are sporadic, and the mode of inheritance is still unclear. We describe two (male and female) sibs born to consanguineous Bedouin parents with manifestations resembling Weaver syndrome. Both sibs had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse low-pitched cry. One of them had an accelerated harmonic skeletal maturation. Differentiating features from Weaver syndrome are discussed, and autosomal recessive inheritance is suggested.
大多数报告的韦弗综合征病例是散发性的，其遗传模式仍不清楚。我们描述了一对近亲结婚的贝都因父母所生的两名（一男一女）同胞，他们表现出类似韦弗综合征的症状。两名同胞均有产前开始的生长加速、肌张力减退、精神运动发育迟缓、皮肤过度松弛、特殊的颅面和肢端异常、牙齿发育异常和/或锯齿状牙龈、关节松弛以及声音嘶哑且音调低沉的哭声。其中一人骨骼成熟呈加速的协调性。文中讨论了与韦弗综合征的鉴别特征，并提出了常染色体隐性遗传。
