Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child
Joint Authors
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 4 (31 Oct. 2016), pp.389-395, 7 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-10-31
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
We report a 6 year old child, second in order of birth of non consanguineous Egyptian parents with typical characteristics of Christ-Siemens-Touraine syndrome.
The patient had sparse light hair over the scalp, scanty eyebrows and eyelashes, a high arched cleft palate, decayed oligodontic teeth, hyperpigmentation all over the body more marked in cheeks, perioral area, chin, neck, axillae and back of both knees, fragile dry skin, hyperextensibility of the metacarpophalangeal joints, dysplastic nails and absent nipples.
Our patient had also gallstones which were not reported previously and mild mental retardation.
His mother had mild teeth abnormalities.
American Psychological Association (APA)
Shawqi, Rabah M.& Jamal, Radawi. 2016. Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 4, pp.389-395.
https://search.emarefa.net/detail/BIM-737394
Modern Language Association (MLA)
Shawqi, Rabah M.& Jamal, Radawi. Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 4 (Oct. 2016), pp.389-395.
https://search.emarefa.net/detail/BIM-737394
American Medical Association (AMA)
Shawqi, Rabah M.& Jamal, Radawi. Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 4, pp.389-395.
https://search.emarefa.net/detail/BIM-737394
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 394-395
Record ID
BIM-737394