Berardinelli–seip syndrome type 2–an Egyptian child
Joint Authors
Shawqi, Rabah M.
Sayf al-Din, Nifin S.
Jamal, Radwah
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 16, Issue 2 (30 Apr. 2015), pp.189-193, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2015-04-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
We report a 2.5 year old male, first in order of birth of first cousin consanguineous parents with the typical features of Berardinelli–Seip congenital lipodystrophy 2 (BSCL2) since birth with moderate mental retardation.
He had generalized lipodystrophy with various dermatologic and systemic manifestations.
The patient looked older than his age with the loss of buccal pad of fat, hypertrichosis mainly on the back and lower limbs, thick scalp hair, mild prognathism, large hands and feet with prominent joints and muscular hypertrophy.
Acanthosis nigricans was evident over the neck and both axillae inspite of the normal level of sugar and insulin.
The abdomen was markedly prominent with mild hepatosplenomegaly and enlarged external genitals.
Echo-cardiography demonstrated cardiac hypertrophy.
Triglyceride level was high with reduced high density lipoproteins (HDL).
American Psychological Association (APA)
Shawqi, Rabah M.& Jamal, Radwah& Sayf al-Din, Nifin S.. 2015. Berardinelli–seip syndrome type 2–an Egyptian child. The Egyptian Journal of Medical Human Genetics،Vol. 16, no. 2, pp.189-193.
https://search.emarefa.net/detail/BIM-564615
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Berardinelli–seip syndrome type 2–an Egyptian child. The Egyptian Journal of Medical Human Genetics Vol. 16, no. 2 (Apr. 2015), pp.189-193.
https://search.emarefa.net/detail/BIM-564615
American Medical Association (AMA)
Shawqi, Rabah M.& Jamal, Radwah& Sayf al-Din, Nifin S.. Berardinelli–seip syndrome type 2–an Egyptian child. The Egyptian Journal of Medical Human Genetics. 2015. Vol. 16, no. 2, pp.189-193.
https://search.emarefa.net/detail/BIM-564615
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 192-193
Record ID
BIM-564615