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Oral‐facial‐digital syndrome with fibular aplasia: a new variant
Author(s) -
Figuera L. E.,
Rivas F.,
Cantú J. M.
Publication year - 1993
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.1399-0004.1993.tb03877.x
Subject(s) - aplasia , medicine , homeotic gene , anatomy , genetics , gene , biology , mutant
Figuera LE, Rivas F, Cantú JM. Oral‐facial‐digital syndrome with fibular aplasia: a new variant. Clin Genet 1993: 44: 190–192. © Munksgaard, 1993 The oral‐facial‐digital (OFD) syndromes constitute a heterogeneous group of entities usually associated with certain features that permit a specific diagnosis. This report refers to a 10‐month‐old girl with cleft palate, mesomelic limb shortening, oligopolydactyly, and fibular aplasia. Since this combination has not been described previously, it is proposed as a distinct type of oral‐facial‐digital syndrome, and we suggest mutations of homeotic genes to explain some abnormalities present in the OFD syndromes.