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Oto-Palato-Digital syndrome in four generations of a larqe family
Authors:Uco E  Pazzaglia Giampiero  Beluffi
Institution:IIstituto di Ortopedia e Traumatologia dell'universitádi Pavia, ed I.R.C.C.S. Policlinico San Matteo;Servizio di Radiodiagnostica, I.R.C.C.S. Policlinico San Matteo, Pavia, Italy
Abstract:A new large family, affected by O-P-D syndrome is reported. Nine members in four consecutive generations have been studied. Computerized tomography study of spine and skull showed abnormalities to be confined to mesodermal derivates, while nervous structures were normal. Transmission pattern may be X-linked with intermediate expression in the female or autosomal dominant with sex limitation of expression.
Keywords:enetic evaluation  0-P-D syndrome  radiographic and T  C  features
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