A boy with severe craniodiaphyseal dysplasia and apparently normal mother.
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.
Bieganski
Tadeusz
T
Department of Paediatric Radiology, Medical University, Lodz, Poland, and Department of Medical Imaging, New Children's Hospital, Sydney, Australia.
Baranska
Dobromila
D
Miastkowska
Irmina
I
Kobielski
Artur
A
Gorska-Chrzastek
Magdalena
M
Kozlowski
Kazimierz
K
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