Meier-gorlin syndrome : report of an additional patient with congenital heart disease
Joint Authors
Shawqi, Rabah M.
Muhammad, Shayma Abd al-Sattar
Jamal, Radwah
Jad, Shayma
al-Abd, Hibah Salah Abd al-Khaliq
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 15, Issue 4 (31 Oct. 2014), pp.393-398, 6 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2014-10-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Topics
Abstract EN
We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS), (microtia, absent patella and short stature).
She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level.
She suffered from recurrent chest infection during the first year of life which improved gradually with age.
Although congenital heart is rarely observed in MGS, our patient had in addition fenestrated interatrial septal defect.
American Psychological Association (APA)
Shawqi, Rabah M.& al-Abd, Hibah Salah Abd al-Khaliq& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar& Jad, Shayma. 2014. Meier-gorlin syndrome : report of an additional patient with congenital heart disease. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 4, pp.393-398.
https://search.emarefa.net/detail/BIM-422348
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Meier-gorlin syndrome : report of an additional patient with congenital heart disease. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 4 (Oct. 2014), pp.393-398.
https://search.emarefa.net/detail/BIM-422348
American Medical Association (AMA)
Shawqi, Rabah M.& al-Abd, Hibah Salah Abd al-Khaliq& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar& Jad, Shayma. Meier-gorlin syndrome : report of an additional patient with congenital heart disease. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 4, pp.393-398.
https://search.emarefa.net/detail/BIM-422348
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 397-398
Record ID
BIM-422348