Frontera Izquierdo P, Cabezuelo Huerta G, Malo Concepción P
An Esp Pediatr. 1985 Sep;23(3):175-82.
Clinical data of nine cases of chondrodysplasia punctata, eight males and one female are reported. Two males presented with rhizomelic form, characterized by severe symmetrical shortness of humeri and femora, marked metaphyseal changes, severe psychomotor retardation and cataracts. Consanguinity of parents in one of these cases was consistent with homozygote for an autosomal retarded physical development starting early in life. Cataracts were absent, and psychomotor development was normal except in two cases who were severely retarded. These two cases suffered also from congenital cardiomyopathy (one case of aortic coarctation and the other of severe pulmonary hypertension without shunts). These seven cases were diagnosed of Conradi-Hunermann type which is a mild form of disease.
报告了9例点状软骨发育不良的临床资料，其中8例男性，1例女性。2例男性表现为肢根型，其特征为肱骨和股骨严重对称性短小、明显的干骺端改变、严重的精神运动发育迟缓及白内障。其中1例父母近亲结婚，符合常染色体隐性遗传，自幼身体发育迟缓。除2例严重发育迟缓者外，其余病例无白内障，精神运动发育正常。这2例还患有先天性心肌病（1例主动脉缩窄，另1例严重肺动脉高压无分流）。这7例被诊断为康拉迪 - 于纳曼型，是该病的一种轻型。
