Khaldi F, Bennaceur B, Hamza M
Arch Fr Pediatr. 1987 Feb;44(2):115-7.
The authors report a new form of metaphyseal chondrodysplasia revealed in a 5 1/2 year-old boy with seizures. This disorder associated coxa vara, large terminal phalanges, bilateral cataracts and severe mental deficiency. Both parents were healthy, suggesting autosomal recessive transmission. There is no associated calcium phosphate metabolism disorder. An enzymatic abnormality might be the cause of the bone, ocular and neuronal lesions.
作者报告了一名5岁半患癫痫男孩所患的一种新型干骺端软骨发育异常。该病症伴有髋内翻、粗大的末节指骨、双侧白内障和严重智力缺陷。父母双方均健康，提示为常染色体隐性遗传。不存在相关的磷酸钙代谢紊乱。一种酶异常可能是骨骼、眼部和神经病变的病因。
