Rambaud-Cousson A, Dudin A A, Zuaiter A S, Thalji A
Department of Pediatrics, Makassed Hospital, Jerusalem, Israel.
Am J Med Genet. 1991 Aug 1;40(2):144-5. doi: 10.1002/ajmg.1320400204.
We report on a newborn girl with syndactyly type IV, hexadactyly of feet, and right tibial hemimelia. She has 5 other relatives with identical anomalies of the hands and feet transmitted as an autosomal dominant trait. Syndactyly type IV is rare as is absence of the tibia. We suggest the possibility that syndactyly type IV may be a more complex entity, including lower limb malformations, and transmitted as autosomal dominant with variable expressivity.
我们报告了一名患有IV型并指、足部多指（六指）以及右胫骨半侧发育不全的新生儿女孩。她还有其他5名亲属患有相同的手足异常，该异常以常染色体显性性状遗传。IV型并指较为罕见，胫骨缺失也很罕见。我们认为IV型并指可能是一个更复杂的病症，包括下肢畸形，并以具有可变表达性的常染色体显性方式遗传。
