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lüll A boy with severe craniodiaphyseal dysplasia and apparently normal mother Bieganski T; Baranska D; Miastkowska I; Kobielski A; Gorska-Chrzastek M; Kozlowski KAm J Med Genet A 2007[Oct]; 143A (20): 2435-43We 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.|Adult[MESH]|Craniofacial Abnormalities/*diagnosis[MESH]|Female[MESH]|Hearing Loss, Bilateral/pathology[MESH]|Humans[MESH]|Hyperostosis/diagnosis[MESH]|Male[MESH]|Optic Atrophy/pathology[MESH]|Osteosclerosis/*diagnosis[MESH]|Radiography[MESH]|Skull/abnormalities/diagnostic imaging[MESH] |