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Genet Couns. 1994;5(4):373-5.

Osteopoikilosis: report of a familial case.

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División de Genética, Hospital de Especialidades, Guadalajara, Jal. Mexico.


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.

[Indexed for MEDLINE]

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