Váradi V, Szabó L, Papp Z
J Med Genet. 1980 Apr;17(2):119-22. doi: 10.1136/jmg.17.2.119.
Six children in an inbred isolate (a gypsy colony) were found to have a syndrome of reduplication of the big toes, supernumerary fingers on the hands, cleft lip/palate or lingual nodule, and somatic and psychomotor retardation. Other features sometimes present were absence of olfactory bulbs and tracts, cryptorchidism, inguinal hernia, and congenital heart disease. The disorder has overlapping features with several previously delineated syndromes, but is most similar to the anomalies of trisomy 13 Mand ohr's syndrome. Our patients had a normal karyotype. The mode of inheritance of this lethal genetic syndrome is probably autosomal recessive.
在一个近亲隔离群体（一个吉普赛聚居地）中发现6名儿童患有以下综合征：大脚趾重复、手部多指、唇腭裂或舌结节，以及躯体和精神运动发育迟缓。其他有时出现的特征包括嗅球和嗅束缺失、隐睾、腹股沟疝和先天性心脏病。该病症与几种先前描述的综合征有重叠特征，但与13三体曼德尔综合征的异常最为相似。我们的患者核型正常。这种致命性遗传综合征的遗传模式可能为常染色体隐性遗传。
