Toledo S P, Mourão P A, Lamego C, Alves C A, Dietrich C P, Assis L M, Mattar E
Am J Med Genet. 1978;2(4):385-95. doi: 10.1002/ajmg.1320020408.
Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low-normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present. Typical metachromatic granules were not seen either in bone-marrow cells or in peripheral blood cells. The X-ray picture showed spondylar and pelvic dysplasia. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin-6-sulfate. The genetic data are consistent with autosomal recessive inheritance.
报道了两例男性和两例女性同胞患有一种特殊形式的脊椎骨骺发育不良。主要临床特征为身材矮小、躯干和颈部中度短缩、指距与身高比例异常、上肢与下肢比例略低于正常、仅在裂隙灯下可见周边角膜点状混浊。智力状态正常。骨髓细胞和外周血细胞中均未见到典型的异染颗粒。X线片显示脊椎和骨盆发育不良。尿黏多糖显示为定性而非定量异常，主要涉及硫酸软骨素-6。遗传数据符合常染色体隐性遗传。
