Abstract
We report a 2months old boy, the first in order of birth of non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II (OFDS II) including cleft lip, high arched palate, retromicrognathia, preaxial polysyndactyly of hands and feet, duplication of thumb and hallux. Interestingly, the patient also had mesoaxial polydactyly of the left hand with extra metacarpal bones characteristic of OFDS. VI, however mentality and MRI brain were normal. This unusual association may suggest an additional subgroup of OFDSs or a variant of OFDS II due to variable gene expression or a transitional type between OFDS II and OFDS VI.
Highlights
Oral-facial-digital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes with different modes of inheritance [1]
We report a case of OFDS showing several features of Oral-facial-digital syndrome II (OFDS II) (Mohr syndrome) with some overlapping features of OFDS VI (Varadi syndrome)
The first oral-facial-digital syndrome was described in 1941 by Mohr, followed by a report by Papillon-Leage and Psaume of another case in 1954. These became known as oral-facial-digital syndrome (OFDS) II and I, respectively
Summary
Oral-facial-digital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes with different modes of inheritance [1]. The features of the various types significantly overlap, and some types are not yet well defined. The classification system for oral-facial-digital syndromes continues to evolve as researchers find more affected individuals and learn more about this disorder [2]. Oral-facial-digital syndrome II (OFDS II) is characterized by frontal bossing, broad nasal bridge, midline cleft upper lip and palate, lobulated tongue, clinodactly, syndactly, brachydactly, pre-and post axial polydactyly, and duplication of the first toe. We report a case of OFDS showing several features of OFDS II (Mohr syndrome) with some overlapping features of OFDS VI (Varadi syndrome)
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