Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities
Joint Authors
Shawqi, Rabah M.
Sayf al-Din, Nifin S.
Abd al-Khaliq, Hibah Salah
Muhammad, Shayma Abd al-Sattar
Raghib, Shayma Jad
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 14, Issue 1 (31 Jan. 2013), pp.109-112, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2013-01-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Topics
Abstract EN
We report a 4 month old female infant with the typical features of Cornelia-de Lange syndrome.
What was striking in our patient was the presence of skeletal anomalies not reported previously.
These included arachnodactly of both fingers and toes, flexion of thumbs at metacarpophalengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds.
Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive.
The patient died at the age of 5 months with bronchopneumonia and gastroenteritis.
American Psychological Association (APA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Raghib, Shayma Jad& Muhammad, Shayma Abd al-Sattar& Sayf al-Din, Nifin S.. 2013. Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities. The Egyptian Journal of Medical Human Genetics،Vol. 14, no. 1, pp.109-112.
https://search.emarefa.net/detail/BIM-358022
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities. The Egyptian Journal of Medical Human Genetics Vol. 14, no. 1 (Jan. 2013), pp.109-112.
https://search.emarefa.net/detail/BIM-358022
American Medical Association (AMA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Raghib, Shayma Jad& Muhammad, Shayma Abd al-Sattar& Sayf al-Din, Nifin S.. Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities. The Egyptian Journal of Medical Human Genetics. 2013. Vol. 14, no. 1, pp.109-112.
https://search.emarefa.net/detail/BIM-358022
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 112
Record ID
BIM-358022