[Cranial metaphysial dysplasia (Jackson) (author's transl)].
The typical development of the radiological and clinical features of cranial metaphyseal dysplasia were observed over a period of nine years in one patient. This condition is most commonly confused with metaphyseal dysplasia (Pyle), but differs from the latter in showing pronounced changes in the skull leading to blindness, deafness and facial paralysis as well as club-shaped metaphyses. Cranial metaphyseal dysplasia, particularly in its autosomal recessive form, leads to reduced intelligence and life expectancy of the patients. The diagnosis can usually be made in early childhood.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D004838:Epiphyses / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005158:Facial Paralysis; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
Die kraniometaphysäre Dysplasie (Jackson).