Meier-gorlin syndrome : report of an additional patient with congenital heart disease

المؤلفون المشاركون

Shawqi, Rabah M.
Muhammad, Shayma Abd al-Sattar
Jamal, Radwah
Jad, Shayma
al-Abd, Hibah Salah Abd al-Khaliq

المصدر

The Egyptian Journal of Medical Human Genetics

العدد

المجلد 15، العدد 4 (31 أكتوبر/تشرين الأول 2014)، ص ص. 393-398، 6ص.

الناشر

الجمعية المصرية للأمراض الوراثية

تاريخ النشر

2014-10-31

دولة النشر

مصر

عدد الصفحات

6

التخصصات الرئيسية

الطب البشري

الموضوعات

الملخص 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.

نمط استشهاد جمعية علماء النفس الأمريكية (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

نمط استشهاد الجمعية الأمريكية للغات الحديثة (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

نمط استشهاد الجمعية الطبية الأمريكية (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

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references : p. 397-398

رقم السجل

BIM-422348