本文报道了在安徽省宿县地区发现的一个Schmid型干骺端软骨发育不良症家族。调查涉及五代,患者10人(6男,4女),现存活6例(4男,2女),经家谱分析,符合常染色体显性遗传。患者智力、外貌、头颅、脊椎均正常,但四肢短小,指(趾)粗短,弓形腿,髋内翻,步态摇摆。男性患者的腕、踩等关节有明显畸型;而在这些部位,女性患者无明显畸型,其它症状也较男性患者为轻,说明男女患者的表现度明显不同。 This article reports a Schmid metaphyseal dyschondroplasia family found in Suxian, Anhui Province. The investigation involved five generations with 10 patients (6 males and 4 females) and 6 surviving females (4 males and 2 females). The pedigree analysis was consistent with autosomal dominant inheritance. Patients with intelligence, appearance, head, spine are normal, but short limbs, finger (toe) stubby, arcuate legs, hip varus, gait swing. Male patients with wrist, foot and other joints have significant deformities; and in these parts, the female patients no significant deformity, other symptoms are also lighter than the male patients, male and female patients showed significantly different performance.