Toriello H V, Higgins J V, Abrahamson J, Waterman D F, Moore W D
Am J Med Genet. 1985 May;21(1):137-42. doi: 10.1002/ajmg.1320210120.
We report on two brothers and their maternal first cousin who have branchial arch defects and other anomalies. Similar physical findings in all three include microcephaly, downslanting palpebral fissures, highly arched palate, apparently lowset, protruding ears, bilateral hearing loss, slightly webbed neck, and mild short stature. In addition, two boys had cryptorchidism, and one had subvalvar pulmonic stenosis and body asymmetry. We suggest that these cousins have an X-linked syndrome of which branchial arch defects are a component. Other pleiotropic manifestations of the mutant gene include microcephaly and cryptorchidism; body asymmetry and relatively short stature may be components as well.
我们报告了两名兄弟及其母系第一代堂兄弟，他们患有鳃弓缺陷及其他异常。三人相似的体格检查结果包括小头畸形、睑裂向下倾斜、高拱腭、明显低位且突出的耳朵、双侧听力丧失、轻度蹼颈和轻度身材矮小。此外，两名男孩患有隐睾症，一名患有瓣膜下肺动脉狭窄和身体不对称。我们认为这些堂兄弟患有一种X连锁综合征，鳃弓缺陷是其中一个组成部分。突变基因的其他多效性表现包括小头畸形和隐睾症；身体不对称和相对身材矮小也可能是其组成部分。
