Chitayat D, Stalker H J, Azouz E M
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Am J Med Genet. 1992 Nov 15;44(5):567-72. doi: 10.1002/ajmg.1320440507.
We report on a son and daughter of Ashkenazi-Jewish parents with postaxial polydactyly of the hands and feet associated with syndactyly and brachydactyly, mental retardation, cerebellar hypoplasia, pectus excavatum, mesomelic shortness of the upper and lower limbs, and pretibial dimples. Although this appears to be an example of one of the OFD syndromes and has many similarities to OFD type II, III, IV and VI, it does not fit satisfactorily into any of the types previously described. Thus this may be a new OFD syndrome, although we cannot exclude a possibility that most or all autosomal recessive OFD syndromes are the result of pleiotropy of a single mutation in a homozygous state.
我们报告了一对患有手足轴后多指（趾）畸形并伴有并指（趾）、短指（趾）畸形、智力发育迟缓、小脑发育不全、漏斗胸、上下肢中段短小及胫前酒窝的阿什肯纳兹犹太裔父母的子女。尽管这似乎是口-面-指综合征（OFD综合征）之一的例子，并且与OFD II型、III型、IV型和VI型有许多相似之处，但它并不完全符合先前描述的任何一种类型。因此，这可能是一种新的OFD综合征，尽管我们不能排除大多数或所有常染色体隐性OFD综合征是纯合状态下单一突变多效性结果的可能性。
