Academic Journal
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome
| العنوان: | Radial, renal and craniofacial anomalies: Baller-Gerold syndrome |
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| المؤلفون: | Jyotsna Murthy, Ramesh Babu, Padmasani Venkat Ramanan |
| المصدر: | Indian Journal of Plastic Surgery, Vol 41, Iss 01, Pp 076-078 (2008) |
| بيانات النشر: | Thieme Medical Publishers, Inc., 2008. |
| سنة النشر: | 2008 |
| المجموعة: | LCC:Surgery |
| مصطلحات موضوعية: | Baller-Gerold syndrome, craniosynostosis, crossed ectopia, ectopic kidneys, microcephaly, radial agenesis, radial club hand, reflux, renal agenesis, vesico ureteric reflux, Surgery, RD1-811 |
| الوصف: | The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the Baller-Gerold syndrome. Genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 0970-0358 1998-376X |
| Relation: | https://doaj.org/toc/0970-0358; https://doaj.org/toc/1998-376X |
| DOI: | 10.4103/0970-0358.41118 |
| URL الوصول: | https://doaj.org/article/f379e930c50f4ebc9da48f1428de968d |
| رقم الانضمام: | edsdoj.f379e930c50f4ebc9da48f1428de968d |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 09700358 1998376X |
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| DOI: | 10.4103/0970-0358.41118 |