Oral‐facial‐digital syndrome with fibular aplasia: a new variant
- 1 October 1993
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 44 (4) , 190-192
- https://doi.org/10.1111/j.1399-0004.1993.tb03877.x
Abstract
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.Keywords
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