Peters’ plus syndrome in an Egyptian patient with some unusual features
Joint Authors
Shawqi, Rabah M.
Abd al-Khaliq, Hibah S.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 11, Issue 1 (31 May. 2010), pp.69-78, 10 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2010-05-31
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Topics
Abstract EN
We report on a 1 5/12 years old male patient with clinical manifestations of Peters’-Plus syndrome.
The patient had Peters’ anomaly (central adherent leucoma, bilateral congenital cataract), growth deficiency, disproportionate short stature, mild mental retardation.
He had also short hands with nearly complete cutanous syndactly between the third and the forth fingers and broad thumbs, bilateral rocker bottom heals, bilateral partial cutanous syndactly between the 2nd and the 3rd toes with broad big toes and genitourinary malformations with generalized hypotonia.
Some of the features reported in Kabuki make-up syndrome were also present in our patient including mainly hepatomegaly and craniosynostosis.
However in our patient some features were present not reported before in both syndromes including thick tounge, thick everted lower lip, anteverted naris, broad thumb and big toe, kyphoscoliosis in lower back, bilateral rocker bottom heals and splenomegaly.
American Psychological Association (APA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah S.. 2010. Peters’ plus syndrome in an Egyptian patient with some unusual features. The Egyptian Journal of Medical Human Genetics،Vol. 11, no. 1, pp.69-78.
https://search.emarefa.net/detail/BIM-262072
Modern Language Association (MLA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah S.. Peters’ plus syndrome in an Egyptian patient with some unusual features. The Egyptian Journal of Medical Human Genetics Vol. 11, no. 1 (May. 2010), pp.69-78.
https://search.emarefa.net/detail/BIM-262072
American Medical Association (AMA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah S.. Peters’ plus syndrome in an Egyptian patient with some unusual features. The Egyptian Journal of Medical Human Genetics. 2010. Vol. 11, no. 1, pp.69-78.
https://search.emarefa.net/detail/BIM-262072
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 77-78
Record ID
BIM-262072