Short report
Two sibs with an unusual pattern of skeletal malformations
resembling osteogenesis imperfecta: a new type of skeletal dysplasia?
U Mooga, P Maroteauxb, C T R M Schrander-Stumpela, A van Ooijc, J J P Schranderd, J P Frynsa e
a Department of
Clinical Genetics, PO Box 1475, Maastricht University, 6201 BL
Maastricht, The Netherlands, b Hôpital
des Enfants Malades, Paris, France, c Department of Orthopaedics, Maastricht
University, Maastricht, The Netherlands, d Department
of Paediatrics, Maastricht University, Maastricht, The Netherlands, e Centre for Human
Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Correspondence to: Dr Moog.
Revised version received 28 May 1999;
Revised version accepted for publication 23 June
1999
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.
Keywords: dentinogenesis imperfecta; multiple fractures; osteogenesis imperfecta; skeletal dysplasia
© 1999 by J Med Genet
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
-
Kim, J.-W., Simmer, J.P.
(2007). Hereditary Dentin Defects. JDR
86: 392-399
[Abstract] [Full Text]
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
