Osteopoikilosis: report of a familial case.
We describe four members of a family in which the clinical and radiological findings lead to consider the diagnosis of osteopoikilosis. The symptoms in all affected members were only those referred to as typical radiological features; these features became more extensive with older age. None of the subjects showed the skin lesions reported in the Buschke-Ollendorff syndrome. The importance of a suitable differential diagnosis is emphasized in order to avoid dangerous and unnecessary treatments.
Sarralde
A
A
División de Genética, Hospital de Especialidades, Guadalajara, Jal. Mexico.
Garcia-Cruz
D
D
Nazara
Z
Z
Sanchez-Corona
J
J
D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D010023:Osteopoikilosis / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography