Title of article :
Oral-facial-digital syndrome type VI with self mutilations
Author/Authors :
shawky, r.m. Ain Shams University - pediatric department, genetics unit, Egypt , elabd, h.s.a.e. Ain Shams University - pediatric department, genetics unit, Egypt , gad, s. Ain Shams University - pediatric department, genetics unit, Egypt , gamal, r. Ain Shams University - pediatric department, genetics unit, Egypt , mohammad, s.a. Ain Shams University - radio diagnosis department, Egypt
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. © 2014.
Keywords :
Molar tooth sign , Oral , facial , digital syndrome type VI , Peudocleft lip , Polydactyly , Self mutilation , Varadi , papp syndrome
Journal title :
Egyptian Journal of Medical Human Genetics
Journal title :
Egyptian Journal of Medical Human Genetics
