Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.

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Abstract

[Indexed for MEDLINE] 11. Eur J Pediatr. 1986 Apr;145(1-2):34-9. doi: 10.1007/BF00441849. Heterogeneity of osteogenesis imperfecta. Biochemical and morphological findings in a case of type III according to Sillence. Stöss H, Pontz BF, Pesch HJ, Ott R. A male infant with pale-blue sclerae, who died at the age of 6 weeks through the aspiration of food, presented multiple fractures and deformation of the long tubular bones. The clinical and radiological findings and the course indicated osteogenesis imperfecta, type III, according to Sillence's classification. The family history was unremarkable. Light and electron microscopic studies of iliac crest bone obtained postmortem, showed an abrupt interruption of endochondral ossification, with an active periosteal ossification. In the region of the fractures, a mixed desmochondral callus was seen. The endoplasmic reticulum of the osteoblasts was markedly dilated, the mitochondria were swollen. The osteoid was reduced in quantity. A postmortem analysis of the collagen types I, II and III obtained from skin, cartilage and bone yielded chromatographically normal collagen constituents. An analysis of the amino acids of the collagen alpha-chains showed an increased hydroxylysine content. The radiological findings and the clinical course both indicated type III osteogenesis imperfecta: identical biochemical findings have been described only for type II. The morphological and biochemical findings described here may be a manifestation of a variable expressivity of type III osteogenesis imperfecta. On the other hand, heterogeneity of type II osteogenesis imperfecta cannot be ruled out. DOI: 10.1007/BF00441849