Holoprosencephaly : a report of 2 cases with different presentations
Joint Authors
Shawqi, Rabah M.
Sadiq, Doaa I.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 9, Issue 2 (30 Nov. 2008), pp.249-256, 8 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2008-11-30
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Topics
Abstract EN
Holoprosencephaly is a common developmental defect of the forebrain and midface in humans.
Clinical expression is variable, extending in unbroken sequence from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial holoprosencephaly.
Here, we describe two unrelated affected cases, with alobar, and semilobar holoprosencephaly with different presentations and clarified the associated phenotypic changes in form of microcephaly, hypotelorism, flat nose, a single nostril ; a midline cleft lip and palate in the first case and solitary median maxillary central incisor, associated with prominent midline palatal ridge in the second case.
American Psychological Association (APA)
Shawqi, Rabah M.& Sadiq, Doaa I.. 2008. Holoprosencephaly : a report of 2 cases with different presentations. The Egyptian Journal of Medical Human Genetics،Vol. 9, no. 2, pp.249-256.
https://search.emarefa.net/detail/BIM-105727
Modern Language Association (MLA)
Shawqi, Rabah M.& Sadiq, Doaa I.. Holoprosencephaly : a report of 2 cases with different presentations. The Egyptian Journal of Medical Human Genetics Vol. 9, no. 2 (Nov. 2008), pp.249-256.
https://search.emarefa.net/detail/BIM-105727
American Medical Association (AMA)
Shawqi, Rabah M.& Sadiq, Doaa I.. Holoprosencephaly : a report of 2 cases with different presentations. The Egyptian Journal of Medical Human Genetics. 2008. Vol. 9, no. 2, pp.249-256.
https://search.emarefa.net/detail/BIM-105727
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 254 -256
Record ID
BIM-105727