Oral-facial-digital syndrome type VI with self mutilations

الملخص EN

We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral-Facial-Digital Syndrome type VI (OFDS VI) including midline pseudo cleft upper lip, sublingual nodule, molar tooth sign by MRI brain, bilateral mesoaxial polydactyly (hexadactyly), and developmental delay.

The patient had self mutilations which was not reported before in OFDS VI except once.