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A boy with severe craniodiaphyseal dysplasia and apparently normal mother
Author(s) -
Bieganski Tadeusz,
Baranska Dobromila,
Miastkowska Irmina,
Kobielski Artur,
GorskaChrzastek Magdalena,
Kozlowski Kazimierz
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31938
Subject(s) - osteosclerosis , medicine , asymptomatic , genu valgum , dysplasia , hyperostosis , anatomy , pediatrics , pathology , surgery
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. © 2007 Wiley‐Liss, Inc.