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Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients
المؤلفون المشاركون
Hafiz, Muna
Salim, Sahar N.
Ajlan, Muna S.
Abd al-Alim, Alice K.
al-Katoury, Ahmad I. S.
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 10، العدد 1 (31 مايو/أيار 2009)، ص ص. 13-25، 13ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2009-05-31
دولة النشر
مصر
عدد الصفحات
13
التخصصات الرئيسية
الموضوعات
الملخص EN
Achondroplasia is the most common form of non lethal skeletal dysplasia.
It is a fully penetrant autosomal dominant disorder and the majority of cases are sporadic resulting from de novo mutations associated with advanced paternal age.
The phenotype of achondroplasia is related to disturbance in endochondral bone formation due to mutations in the fi broblast growth factor receptor-3 (FGFR3) gene.
Aim of the Work: Evaluation of the cardinal phenotypic features in achondroplasia, the body physique using anthropometric measurements, the characteristic radiological signs in the patients as a main tool for diagnosis and detection of the most common mutations in achondroplasia patients in the studied sample.
Subjects and Methods: From 42 cases referred to us as achondroplasia, we selected 20 cases where clinical manifestations were consistent with achondroplasia.
Cases were subjected to full clinical examination, detailed anthropometric measurements, whole body skeletal survey and molecular studies of the most common mutations of the FGFR3 gene using PCR amplifi cation technique.
Results: Nineteen cases were sporadic (95%) and one case had an affected father (5%).
A paternal age above 35 years at the time of child’s birth was present in 7 cases (35%).
Paternal exposure to occupational heat was noted in 6 cases (30%) and parental exposure to chemicals in 3 cases (15%).
All cases showed typical clinical and radiological manifestations of achondroplasia.
Anthropometric measurements quantitatively confi rmed the body physique in the studied cases.
G380R common mutations of the FGFR3 gene were detected in 15/18 cases (83%) with the G to A transition at nucleotide 1138 in 14 cases (77%).
Agenesis of corpus callosum, not previously reported in association with achondroplasia, was present in the only case with the G-C transversion mutation at nucleotide 1138 (5%).
Conclusions: Awareness of the cardinal features of achondroplasia, proper anthropometric measurements and detailed skeletal survey are the key for accurate diagnosis, genetic counseling and avoidance of over diagnosis.
The majority of studied Egyptian achondroplasia patients have the same common mutation that has been most often defi ned in patients with achondroplasia from other countries.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Hafiz, Muna& Salim, Sahar N.& Ajlan, Muna S.& Abd al-Alim, Alice K.& al-Katoury, Ahmad I. S.. 2009. Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients. The Egyptian Journal of Medical Human Genetics،Vol. 10, no. 1, pp.13-25.
https://search.emarefa.net/detail/BIM-203812
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Ajlan, Muna S.…[et al.]. Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients. The Egyptian Journal of Medical Human Genetics Vol. 10, no. 1 (May. 2009), pp.13-25.
https://search.emarefa.net/detail/BIM-203812
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Hafiz, Muna& Salim, Sahar N.& Ajlan, Muna S.& Abd al-Alim, Alice K.& al-Katoury, Ahmad I. S.. Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients. The Egyptian Journal of Medical Human Genetics. 2009. Vol. 10, no. 1, pp.13-25.
https://search.emarefa.net/detail/BIM-203812
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 23-25
رقم السجل
BIM-203812
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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