Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2178175 | Egyptian Journal of Medical Human Genetics | 2014 | 5 Pages |
Abstract
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.
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Authors
Rabah M. Shawky, Heba Salah Abd-Elkhalek Elabd, Shaimaa Gad, Radwa Gamal, Shaimaa Abdelsattar Mohammad,