Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient
Joint Authors
Shawqi, Rabah M.
Sayf al-Din, Nifin S.
Jamal, Radwah
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 16, Issue 4 (31 Oct. 2015), pp.381-385, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2015-10-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical dimensions of the palpebral fissures, bilateral eye lids drooping, lateral displacement of inner canthi with a small skin-fold obscuring the inner canthus of the eye.
Our patient had normal psychomotor development.
His father was similarly affected suggesting autosomal dominant inheritance.
The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome.
Most probably these additional features are associations with BPES.
American Psychological Association (APA)
Shawqi, Rabah M.& Jamal, Radwah& Sayf al-Din, Nifin S.. 2015. Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient. The Egyptian Journal of Medical Human Genetics،Vol. 16, no. 4, pp.381-385.
https://search.emarefa.net/detail/BIM-607918
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient. The Egyptian Journal of Medical Human Genetics Vol. 16, no. 4 (2015), pp.381-385.
https://search.emarefa.net/detail/BIM-607918
American Medical Association (AMA)
Shawqi, Rabah M.& Jamal, Radwah& Sayf al-Din, Nifin S.. Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient. The Egyptian Journal of Medical Human Genetics. 2015. Vol. 16, no. 4, pp.381-385.
https://search.emarefa.net/detail/BIM-607918
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 384-385
Record ID
BIM-607918