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Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?

We report a 6 year old boy with multiple fractures owing to bilateral, peculiar, wave-like defects of the tibial corticalis with alternative hyperostosis and thinning. Furthermore, he had Wormian bones of the skull, dentinogenesis imperfecta, and a distinct facial phenotype with hypertelorism and pe...

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Autors principals: Moog, U, Maroteaux, P, Schrander-Stumpel, C, van Ooij, A, Schrander, J, Fryns, J
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 1999
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734253/
https://ncbi.nlm.nih.gov/pubmed/10544232
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