Merlob P, Grunebaum M
J Med Genet. 1986 Jun;23(3):237-41. doi: 10.1136/jmg.23.3.237.
A new family with syndactyly type II or synpolydactyly is described with 16 affected members in six generations. No other major skeletal or extraskeletal malformations were present, but the association with minor local anomalies may be a common feature. Various metacarpal or metatarsal abnormalities may be part of this type of syndactyly. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance and the frequent occurrence of non-manifesting heterozygotes resulting in 'skipped generations'.
本文描述了一个患有Ⅱ型并指（趾）或并指（趾）多指（趾）畸形的新家族，该家族六代中有16名患者。未发现其他主要的骨骼或骨骼外畸形，但与轻微局部异常的关联可能是一个常见特征。各种掌骨或跖骨异常可能是这种并指（趾）畸形的一部分。家族谱系证实了常染色体显性遗传模式，其具有不完全外显率，并且经常出现不表现症状的杂合子，导致“隔代遗传”。
