Sanjad sakati syndrome : case reports from Egypt q
المؤلفون المشاركون
Hafiz, Muna
Musa, Nuha
Ibrahim, Amani
Anwar, Ghadah M.
المصدر
Egyptian Pediatric Association Gazette
العدد
المجلد 65، العدد 1 (31 مارس/آذار 2017)، ص ص. 6-9، 4ص.
الناشر
تاريخ النشر
2017-03-31
دولة النشر
مصر
عدد الصفحات
4
التخصصات الرئيسية
الموضوعات
الملخص EN
Background : Sanjad Sakati Syndrome (SSS) is a rare autosomal recessive congenital disorder.
It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, dysmorphic features, as well as mild to severe mental retardation.
The prevalence of this syndrome is not known.
Reported patients were almost exclusively from the Arabian Peninsula.
The syndrome has equal distribution for both sexes and has severe and often fatal consequences.
Although some of the features seen in SSS resemble DiGeorge Syndrome, Kenny-Caffey Syndrome and familial Hypoparathyroidism, lack of association with normal intelligence, cardiac lesion, lymphopenia or skeletal abnormalities makes it a distinct entity.
SSS is caused by mutations in the gene-encoding tubulin-specific chaperone E (TBCE; 604934), located on chromosome 1q42.3.
SSS is listed in Online Mendelian Inheritance in Man [OMIM] #241410.
We report on three Egyptian cases of Sanjad-Sakati Syndrome, one case being confirmed by molecular diagnosis.
Cases : They have typical dysmorphic facial features comprised of a narrow face, deep-set eyes, a beaked nose, large floppy ears, a thin upper lip and micrognathia.
The three cases showed growth retardation of variable degrees.
Cardiac examination was normal in all cases.
Laboratory results showed low total calcium, low ionized calcium, high serum phosphorous, normal alkaline phosphatase level, and low or normal serum parathyroid hormone which are essential for diagnosing hypoparathyroidism.
Conclusion : This diagnosis allowed for proper treatment of the patients, prevented associated comorbidities, provided a genetic counseling to their families, and enriched the genetic data concerning this syndrome on the Egyptian population being reported for the first time
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Hafiz, Muna& Anwar, Ghadah M.& Ibrahim, Amani& Musa, Nuha. 2017. Sanjad sakati syndrome : case reports from Egypt q. Egyptian Pediatric Association Gazette،Vol. 65, no. 1, pp.6-9.
https://search.emarefa.net/detail/BIM-778522
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Hafiz, Muna…[et al.]. Sanjad sakati syndrome : case reports from Egypt q. Egyptian Pediatric Association Gazette Vol. 65, no. 1 (Mar. 2017), pp.6-9.
https://search.emarefa.net/detail/BIM-778522
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Hafiz, Muna& Anwar, Ghadah M.& Ibrahim, Amani& Musa, Nuha. Sanjad sakati syndrome : case reports from Egypt q. Egyptian Pediatric Association Gazette. 2017. Vol. 65, no. 1, pp.6-9.
https://search.emarefa.net/detail/BIM-778522
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 8-9
رقم السجل
BIM-778522
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر