Gollop T R, Fontes L R
Am J Med Genet. 1985 Sep;22(1):59-68. doi: 10.1002/ajmg.1320220106.
The Greig cephalopolysyndactyly syndrome in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and syndactyly of fingers and toes. Occasionally other skeletal or nonskeletal defects are present. This is an autosomal dominant trait with complete penetrance and variable expressivity. Prognosis for mental and physical development of the affected patients is good, surgery being indicated primarily for aesthetic and functional correction of polydactyly and syndactyly. We report on a Brazilian family in whom the mother and two of three sons were affected.
Greig头多指(趾)综合征的特征是一组颅面缺陷(巨头畸形、宽鼻根),导致特殊的面部外观、手部轴后(偶尔轴前)多指(趾)、足部轴前(很少轴后)多指(趾)以及手指和脚趾并指(趾)。偶尔还会出现其他骨骼或非骨骼缺陷。这是一种常染色体显性性状,具有完全外显率和可变表达性。受影响患者的智力和身体发育预后良好,手术主要用于多指(趾)和并指(趾)的美学和功能矫正。我们报告了一个巴西家庭,母亲和三个儿子中的两个受到影响。