Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child
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, hype...
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Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863015000725 |
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doaj-e98ce9a1d4194f958337c868dab7ef9f2020-11-25T02:03:00ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302016-10-0117438939510.1016/j.ejmhg.2015.06.002Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian childRabah M. ShawkyRadwa GamalWe 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.http://www.sciencedirect.com/science/article/pii/S1110863015000725Christ-Siemens-Touraine syndromeCleft palateAbsent nipplesGall stonesMental retardation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Rabah M. Shawky Radwa Gamal |
spellingShingle |
Rabah M. Shawky Radwa Gamal Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child Egyptian Journal of Medical Human Genetics Christ-Siemens-Touraine syndrome Cleft palate Absent nipples Gall stones Mental retardation |
author_facet |
Rabah M. Shawky Radwa Gamal |
author_sort |
Rabah M. Shawky |
title |
Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child |
title_short |
Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child |
title_full |
Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child |
title_fullStr |
Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child |
title_full_unstemmed |
Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child |
title_sort |
christ-siemens-touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an egyptian child |
publisher |
SpringerOpen |
series |
Egyptian Journal of Medical Human Genetics |
issn |
1110-8630 |
publishDate |
2016-10-01 |
description |
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. |
topic |
Christ-Siemens-Touraine syndrome Cleft palate Absent nipples Gall stones Mental retardation |
url |
http://www.sciencedirect.com/science/article/pii/S1110863015000725 |
work_keys_str_mv |
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1724950016897843200 |