Miranda A, Zenteno J C, Santiago E, Kofman-Alfaro S
Servicio de Genética, Hospital General de México, Facultad de Medicina, UNAM, México, DF.
Clin Genet. 1998 Jul;54(1):83-5. doi: 10.1111/j.1399-0004.1998.tb03700.x.
Isolated adducted thumbs is an uncommon malformation that occurs sporadically in the majority of cases although some affected families have been reported. Previously, autosomal dominant inheritance was suggested in two familial cases, but this mode of inheritance has not been confirmed. Here we describe a family with adducted thumbs and other digital anomalies in which seven members (six females and one male) are affected in three consecutive generations. Additionally, the patients showed mild abnormalities of fingers 2nd-4th bilaterally and hypoplasia of the middle phalanx of the 5th fingers. This family represents an autosomal dominant condition that apparently has not been previously reported.
孤立性拇指内收是一种罕见的畸形，在大多数情况下为散发性，不过也有一些受累家族的报道。此前，在两例家族性病例中曾提示为常染色体显性遗传，但这种遗传模式尚未得到证实。在此，我们描述一个患有拇指内收及其他手指异常的家族，该家族连续三代中有七名成员（六名女性和一名男性）受累。此外，患者双侧第2 - 4指有轻度异常，第5指中节指骨发育不全。这个家族代表了一种显然此前未被报道过的常染色体显性疾病。
