Mattei J F, Aymé S
J Med Genet. 1983 Dec;20(6):433-5. doi: 10.1136/jmg.20.6.433.
Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the condition described by Váradi et al or a variant of the Mohr syndrome.
三名同胞,即先证者和一对同卵双胞胎,患有包括智力发育迟缓、出生后身体发育迟缓、足部轴前多指畸形、第三掌骨裂、正中唇裂、舌背脂肪错构瘤、传导性听力损失以及单侧或双侧肾缺如在内的病症。这种可能为常染色体隐性遗传的综合征可能是瓦拉迪等人所描述病症的又一实例,或者是莫尔综合征的一种变体。