Familial peters plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss : expanding the clinical spectrum
Joint Authors
Shawqi, Rabah M.
Abd al-Khaliq, Hibah S.
al-Sayyid, Sulaf M.
Raghib, Shayma Jad
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 14, Issue 4 (31 Oct. 2013), pp.423-428, 6 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2013-10-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Topics
Abstract EN
Peter’s anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs involving the central or entire cornea.
It may be associated with other ocular or systemic abnormalities.
Peters Plus syndrome, also known as Krause–Kivlin syndrome, characterized by additional anomalies including short stature with developmental delay, facial dysmorphism, genitourinary abnormalities ; syndactyly ; brachycephaly ; and cardiac, neural, and hearing abnormalities.
Here we report an 8 month old boy with typical features of Peters Plus syndrome including eye anomalies, dysmorphic features, global developmental delay, growth retardation, bilateral talipes equinovarus, complex renal anomalies, absent anal canal, sacral agenesis and sensorineural hearing loss.
To our knowledge, the last three features were not reported before.
American Psychological Association (APA)
Shawqi, Rabah M.& al-Sayyid, Sulaf M.& Abd al-Khaliq, Hibah S.& Raghib, Shayma Jad. 2013. Familial peters plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss : expanding the clinical spectrum. The Egyptian Journal of Medical Human Genetics،Vol. 14, no. 4, pp.423-428.
https://search.emarefa.net/detail/BIM-360651
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Familial peters plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss : expanding the clinical spectrum. The Egyptian Journal of Medical Human Genetics Vol. 14, no. 4 (Oct. 2013), pp.423-428.
https://search.emarefa.net/detail/BIM-360651
American Medical Association (AMA)
Shawqi, Rabah M.& al-Sayyid, Sulaf M.& Abd al-Khaliq, Hibah S.& Raghib, Shayma Jad. Familial peters plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss : expanding the clinical spectrum. The Egyptian Journal of Medical Human Genetics. 2013. Vol. 14, no. 4, pp.423-428.
https://search.emarefa.net/detail/BIM-360651
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 422-423
Record ID
BIM-360651