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).

Pulmonary insufficiency

The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.

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PMID (PMCID)
3670910	OTHER	Infant, Newborn
	Bronchoscopic evaluation of airway obstruction in campomelic dysplasia.
	Grad R, Sammut PH, Britton JR, Goodrich P, Hoyme HE, Dambro NN. Pediatr Pulmonol. 1987;3(5):364-7.
	Campomelic dysplasia is a generalized disorder of cartilaginous growth and development, leading to early death from pulmonary insufficiency.