Oral-facial-digital syndrome type VI with self mutilations
Joint Authors
Shawqi, Rabah M.
Muhammad, Shayma Abd al-Sattar
Jamal, Radwah
Jad, Shayma
al-Abd, Hibah Salah Abd al-Khaliq
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 15, Issue 4 (31 Oct. 2014), pp.399-403, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2014-10-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract 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.
American Psychological Association (APA)
Shawqi, Rabah M.& al-Abd, Hibah Salah Abd al-Khaliq& Jad, Shayma& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar. 2014. Oral-facial-digital syndrome type VI with self mutilations. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 4, pp.399-403.
https://search.emarefa.net/detail/BIM-422583
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Oral-facial-digital syndrome type VI with self mutilations. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 4 (Oct. 2014), pp.399-403.
https://search.emarefa.net/detail/BIM-422583
American Medical Association (AMA)
Shawqi, Rabah M.& al-Abd, Hibah Salah Abd al-Khaliq& Jad, Shayma& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar. Oral-facial-digital syndrome type VI with self mutilations. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 4, pp.399-403.
https://search.emarefa.net/detail/BIM-422583
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 403
Record ID
BIM-422583
