دورية أكاديمية
The association between preaxial polydactyly and radial longitudinal deficiency in syndromic cases: a report on nine families.
| العنوان: | The association between preaxial polydactyly and radial longitudinal deficiency in syndromic cases: a report on nine families. |
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| المؤلفون: | Al-Qattan MM; Plastic and Hand Surgery Division, King Saud University, Riyadh, Saudi Arabia. |
| المصدر: | The Journal of hand surgery, European volume [J Hand Surg Eur Vol] 2018 Sep; Vol. 43 (7), pp. 744-750. Date of Electronic Publication: 2018 Feb 16. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Sage Publications Country of Publication: England NLM ID: 101315820 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2043-6289 (Electronic) Linking ISSN: 02667681 NLM ISO Abbreviation: J Hand Surg Eur Vol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2009-> : London : Sage Publications Original Publication: Oxford : Elsevier |
| مواضيع طبية MeSH: | Polydactyly*/diagnostic imaging , Polydactyly*/genetics, Radius/*abnormalities , Thumb/*abnormalities, Adult ; Child ; Child, Preschool ; Humans ; Infant ; Male ; Mutation ; Radius/diagnostic imaging ; Retrospective Studies ; T-Box Domain Proteins/genetics ; Thumb/diagnostic imaging ; Transcription Factors/genetics |
| مستخلص: | Preaxial polydactyly and radial longitudinal deficiency are usually viewed as two different entities. We present nine families with different disorders in which both preaxial polydactyly and radial longitudinal deficiency were seen in the phenotype. This indicates that both entities may be caused by the same developmental error or insult. The pathogenesis is complex and may be related to the interactions of two signalling loops: the first loop (named as the radial longitudinal deficiency loop) contains genes/proteins responsible for the development of the radial ray; and the second loop (named as the preaxial polydactyly loop) contains the Sonic Hedgehog involved in the pathogenesis of preaxial polydactyly. This entity is named as the preaxial polydactyly-radial longitudinal deficiency association and should be included in the description of the preaxial polydactyly spectrum. Level of Evidence: IV. |
| فهرسة مساهمة: | Keywords: Preaxial polydactyly; radial longitudinal deficiency; thumb duplication |
| المشرفين على المادة: | 0 (SALL1 protein, human) 0 (T-Box Domain Proteins) 0 (T-box transcription factor 5) 0 (Transcription Factors) |
| SCR Disease Name: | Polydactyly preaxial type 1 |
| تواريخ الأحداث: | Date Created: 20180217 Date Completed: 20191125 Latest Revision: 20191125 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1177/1753193418758862 |
| PMID: | 29451098 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2043-6289 |
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| DOI: | 10.1177/1753193418758862 |