title: A boy with severe craniodiaphyseal dysplasia and apparently normal mother.
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.
authors.affiliation: Department of Paediatric Radiology, Medical University, Lodz, Poland, and Department of Medical Imaging, New Children's Hospital, Sydney, Australia.
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Bieganski
authors.forename: Dobromila
authors.initials: D
authors.lastname: Baranska
authors.forename: Irmina
authors.initials: I
authors.lastname: Miastkowska
authors.forename: Artur
authors.initials: A
authors.lastname: Kobielski
authors.forename: Magdalena
authors.initials: M
authors.lastname: Gorska-Chrzastek
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Kozlowski
mesh_terms: D000328:Adult; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D005260:Female; D006312:Hearing Loss, Bilateral / Q000473:pathology; D006801:Humans; D015576:Hyperostosis / Q000175:diagnosis; D008297:Male; D009896:Optic Atrophy / Q000473:pathology; D010026:Osteosclerosis / Q000175:diagnosis*; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging