Hall B D, Spranger J W
Am J Dis Child. 1980 Mar;134(3):285-9. doi: 10.1001/archpedi.1980.02130150039010.
Campomelic dysplasia is a distinct entity that should not be confused with other conditions associated with congenital bowing of the long bones. Evidence suggests that some affected males have female external genitalia, and vagina, uterus, and fallopian tubes. Examination of a newly reported sibling pair has increased support for autosomal recessive inheritance in campomelic dysplasia.
先天性弓状腿综合征是一种独特的病症，不应与其他与长骨先天性弯曲相关的病症相混淆。有证据表明，一些患病男性具有女性外生殖器、阴道、子宫和输卵管。对一对新报道的同胞兄妹的检查，进一步支持了先天性弓状腿综合征的常染色体隐性遗传模式。
