Nevin N C, Thomas P S
Department of Medical Genetics, Queen's University of Belfast, Northern Ireland.
Am J Med Genet. 1989 Feb;32(2):151-4. doi: 10.1002/ajmg.1320320202.
We describe a further patient with the orofaciodigital syndrome type IV. The clinical characteristics include lobulated tongue, pseudo-cleft of lip, pre- and postaxial polydactyly of hands and feet, severe talipes equinovarus, mesomelic limb shortness associated with tibial hypoplasia, and severe bilateral deafness. Five similar cases including the present patient are now on record. Autosomal recessive inheritance is likely.
我们描述了另一例患有IV型口面指综合征的患者。临床特征包括分叶状舌、唇假性裂、手足的轴前和轴后多指(趾)畸形、严重马蹄内翻足、与胫骨发育不全相关的中肢短小以及严重双侧耳聋。包括本例患者在内,目前已有五例类似病例记录在案。可能为常染色体隐性遗传。