Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations
المؤلفون المشاركون
المصدر
العدد
المجلد 2016، العدد 2016 (31 ديسمبر/كانون الأول 2016)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2016-11-02
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes.
Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders.
Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation.
Follow-up periods were 3.5 years and 1 year in the patients.
Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems.
Ophthalmologic examination suggested septooptic dysplasia.
Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter.
Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes.
Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa.
Cranial MRI was normal.
Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients.
Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene.
Clinical findings and developmental prognosis vary in PEX1 gene mutation.
Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD).
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Gunduz, Mehmet& Unal, Ozlem. 2016. Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. Case Reports in Pediatrics،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1102411
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Gunduz, Mehmet& Unal, Ozlem. Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. Case Reports in Pediatrics No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1102411
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Gunduz, Mehmet& Unal, Ozlem. Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. Case Reports in Pediatrics. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1102411
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1102411
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