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Further Elucidation of a Distinct Entity

Bryan D. Hall, MD; Jürgen W. Spranger, MD

Am J Dis Child. 1980;134(3):285-289.

Abstract
• 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.

(Am J Dis Child 134:285-289, 1980)

Author Affiliations
From the Department of Pediatrics, University of California, San Francisco (Dr Hall), and the Kinderklinik, University of Mainz, Germany (Dr Spranger).

Footnotes
Reprint requests to M648, Department of Pediatrics, University of California, San Francisco, CA 94143 (Dr Hall).

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