Campomelic dysplasia. Further elucidation of a distinct entity
B. D. Hall and J. W. Spranger
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.
