A case of autosomal recessive form of cranio-metaphyseal dysplasia with unusual features and with bone fragility.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D005147:Facial Bones / Q000002:abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D005598:Fractures, Spontaneous / Q000000981:diagnostic imaging*; D005808:Genes, Recessive; D006801:Humans; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging*