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

U. Moog, P. Maroteaux, C.T.R.M. Schrander-Stumpel, A. van Ooij, J.J.P. Schrander, J.P. Frijns

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Department of Clinical Genetics, PO Box 1475, Maastricht University, 6201 BL Maastricht, The Netherlands.

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 periorbital fullness. Collagen studies showed normal results. His sister, aged 2 years, showed the same facial phenotype and dental abnormalities as well as Wormian bones, but no radiographical abnormalities of the tubular bones so far. The mother also had dentine abnormalities but no skeletal abnormalities on x ray. This entity is probably the same as that described in a sporadic case by Suarez and Stickler in 1974. In spite of the considerable overlap with osteogenesis imperfecta (bone fragility, Wormian bones, and dentinogenesis imperfecta), we believe this disorder to be a different entity, in particular because of the unique cortical defects, missing osteopenia, and normal results of collagen studies.
Original languageEnglish
Pages (from-to)856-858
Number of pages3
JournalJournal of Medical Genetics
Volume36
Issue number11
Publication statusPublished - 1 Jan 1999

Cite this