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Cartilage-hair hypoplasia

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

Micromelia

The presence of abnormally small extremities.

Total: 1

(per page)

PMID (PMCID)
1743218	MIXED_SAMPLE	Infant, Newborn
	Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia.
	Le Merrer M, Maroteaux P. Eur J Pediatr. 1991;150(12):847-51.
	The early radiological changes observed in six children with cartilage hair hypoplasia demonstrate the misleading aspect of this chondrodysplasia: micromelia, massive appearance of the long bones and round inferior femoral epiphyses, without distinct metaphyseal involvement.