Case report reports penile agenesis and clavicular flattening in a child with oral facial digital syndrome, highlighting phenotypic variability or an unclassified subtype.
We report a male patient with the clinical characteristics of an OFDS (oral facial digital syndrome). He also has penile agenesis, clavicular flattening and cerebellar anomalies. This patient was classified as a severe form of OFD type II-Mohr syndrome but the possibility of this being OFDS VI-Varadi syndrome or a new form of OFDS cannot completely be excluded.
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Yldrm et al. (2002) studied this question.
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