Trigonocephaly and dandy walker variant in an Egyptian child-probable mild opitz trigonocephaly C syndrome
Joint Authors
Shawqi, Rabah M.
Abd al-Khaliq, Hibah Salah
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 13, Issue 1 (30 Apr. 2012), pp.115-118, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2012-04-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Topics
Abstract EN
We report a one year old male patient with slight upward slanting palpebral fissures, hypertelorism, bulbous nose, high arched narrow palate, low set ears, bilateral partial simian creases, short neck with loose skin over it, thick ridge over the metopic suture giving a trigonocephaly, brachycephalic shape to the skull, hyperplastic scrotum and bilateral undescended testes, and mild generalised hypotonic.
Although most of the reported cases suffered from severe mental retardation, our patient had mild mental retardation.
CT of the brain demonstrated Dandy walker variant and trigonocephaly.
To our knowledge this anomaly was reported once before with Opitz trigonocephaly C syndrome (OTCS).
We consider our patient as a mild form of OTCS and he needs close follow up because over time there may be a developmental delay, severe mental retardation and seizures.
American Psychological Association (APA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah. 2012. Trigonocephaly and dandy walker variant in an Egyptian child-probable mild opitz trigonocephaly C syndrome. The Egyptian Journal of Medical Human Genetics،Vol. 13, no. 1, pp.115-118.
https://search.emarefa.net/detail/BIM-312938
Modern Language Association (MLA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah. Trigonocephaly and dandy walker variant in an Egyptian child-probable mild opitz trigonocephaly C syndrome. The Egyptian Journal of Medical Human Genetics Vol. 13, no. 1 (2012), pp.115-118.
https://search.emarefa.net/detail/BIM-312938
American Medical Association (AMA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah. Trigonocephaly and dandy walker variant in an Egyptian child-probable mild opitz trigonocephaly C syndrome. The Egyptian Journal of Medical Human Genetics. 2012. Vol. 13, no. 1, pp.115-118.
https://search.emarefa.net/detail/BIM-312938
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 118
Record ID
BIM-312938