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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.
This article has been cited by other articles:
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  J.-W. Kim and J.P. Simmer Hereditary Dentin Defects J. Dent. Res., May 1, 2007; 86(5): 392 - 399. [Abstract] [Full Text] [PDF]
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