A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe withwithout Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype
المؤلف
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-05-16
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
Synpolydactyly type 1 (SPD1, OMIM 186000) is inherited as autosomal dominant and is caused by HOXD13 mutations.
The condition is rare and is known for its phenotypic heterogeneity.
In the homozygous state, the phenotype is generally more severe and is characterized by three main features: a more severe degree of syndactyly, a more severe degree of brachydactyly, and the frequent loss of the normal tubular shape of the metacarpals/metatarsals.
Due to the phenotypic heterogeneity and the phenotypic overlap with other types of syndactyly, no pathognomonic feature has been described for the homozygous phenotype of SPD1.
In the current communication, the author reviews the literature on the phenotypes of SPD1 in homozygous patients.
The review documents that not all homozygous patients show a severe hand phenotype.
The review also defines the “relatively long and medially deviated big toe with/without cupping of the forefoot” as a pathognomonic feature in the phenotype.
Illustration of this feature is done through a demonstrative clinical report in a multigeneration family with SPD1 and HOXD13 polyalanine repeat expansion.
Finally, the pathogenesis of the clinical features is reviewed.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
al-Qattan, Mohammad M.. 2020. A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe withwithout Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype. BioMed Research International،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1132287
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
al-Qattan, Mohammad M.. A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe withwithout Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype. BioMed Research International No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1132287
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
al-Qattan, Mohammad M.. A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe withwithout Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1132287
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1132287
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