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本病属罕见的软骨发育障碍疾病 ,属以短肢为主的短肢和短躯干侏儒 ,国内外极少报道[1～ 4] 。我院诊断 2例 ,报告如下。例 1,男 ,31012 岁 ,足月顺产 ,出生时发育正常 ,因身材矮小(81cm高 )就诊。查体 :颅面部相称 ,角膜无浑浊 ,四肢短小 ,关节增大 ,双膝双踝内翻畸形。腹部平?
The disease is a rare disease of cartilage development, is a short-limb-based short-legged and short-legged dwarf, rarely reported at home and abroad [1 ~ 4]. 2 cases diagnosed in our hospital, the report is as follows. Example 1, male, 31012 years old, full term spontaneous, normal development at birth, due to short stature (81cm high) treatment. Physical examination: the craniofacial symmetry, no corneal opacity, short limbs, joint enlargement, knees double ankle varus deformity. Abdomen flat?