Campomelic dysplasia

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

Respiratory distress

Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.


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(per page)
PMID (PMCID)
3883340
FEMALE
Prenatal diagnosis of campomelic dysplasia by ultrasonography.
Winter R, Rosenkranz W, Hofmann H, Zierler H, Becker H, Borkenstein M.
Prenat Diagn. 1985;5(1):1-8.
Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth.