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Case Reports
. 2007 Oct 15;143A(20):2435-43.
doi: 10.1002/ajmg.a.31938.

A boy with severe craniodiaphyseal dysplasia and apparently normal mother

Tadeusz Bieganski  1 , Dobromila Baranska, Irmina Miastkowska, Artur Kobielski, Magdalena Gorska-Chrzastek, Kazimierz Kozlowski
Affiliations
Case Reports

A boy with severe craniodiaphyseal dysplasia and apparently normal mother

Tadeusz Bieganski et al. Am J Med Genet A. .

Abstract

We describe a boy and his mother affected with craniodiaphyseal dysplasia (CDD). The boy had a very severe form of the disease with extensive osteosclerosis already at birth. Facial diplegia, bilateral hearing loss and optic nerve atrophy were early, severe complications of the disease. At age 7 years progressive genu valgum and unusual epimetaphyseal radiographic appearances suggested hyperparathyroidism. This was confirmed by biochemical tests. Because of some facial similarity between the asymptomatic mother and the propositus, a limited skeletal survey of the mother was performed. It demonstrated cranial osteosclerosis and hyperostosis. It is possible that the mother has somatic mosaicism for a mutation of the genes causing CDD.

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