Lichtenstein J R, Sundaram M, Burdge R
J Med Genet. 1980 Feb;17(1):41-3. doi: 10.1136/jmg.17.1.41.
Dyschondrosteosis is a mesomelic form of short stature which occurs in conjunction with a characteristic wrist deformity. Madelung's deformity. A family with dyschondrosteosis had an affected father and two daughters. The affected females had dyschondrosteosis and Madelung's deformity, while the affected males had dyschondrosteosis, but no Madelung's deformity. All affected members had arthralgias. The occurrence of male to male transmission confirms an autosomal dominant inheritance pattern for this disorder.
骨干续连症是一种身材短小的中肢发育异常形式,常伴有特征性的腕部畸形,即马德隆畸形。一个患有骨干续连症的家族中有一位患病父亲和两个女儿。患病女性既有骨干续连症又有马德隆畸形,而患病男性有骨干续连症,但没有马德隆畸形。所有患病成员都有关节痛。父子相传的情况证实了该疾病的常染色体显性遗传模式。