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Oto‐Palato‐Digital syndrome in four generations of a larqe family
Author(s) -
Pazzaglia Uco E.,
Beluffi Giampiero
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb00617.x
Subject(s) - skull , biology , anatomy , medicine , genetics
A new large family, affected by 0‐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 autosoma1 dominant with sex limitation of expression.