Al-Awadi/Raas-Rothschild syndrome: Two new cases and review
| Autor: | Matteo Della Monica, Fortunato Lonardo, Daniela V Luquetti, Gioacchino Scarano, Giovanna Sabba |
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| Rok vydání: | 2007 |
| Předmět: |
Male
medicine.medical_specialty Limb Deformities Congenital Schinzel phocomelia syndrome Genes Recessive Genetic Counseling Phocomelia Pelvis Fetus Pelvic hypoplasia Genetics medicine Humans Hypoplastic pelvis Genetics (clinical) Family Health Al-Awadi-Raas-Rothschild Syndrome business.industry fungi Syndrome Aplasia Anatomy medicine.disease Dermatology Hypoplasia Female Imperforate anus business |
| Zdroj: | American Journal of Medical Genetics Part A. :3169-3174 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.31712 |
| Popis: | Al-Awadi/Raas-Rothschild syndrome, an autosomal recessive disorder, is characterized by severe malformations of the upper and lower limbs, and a hypoplastic pelvis. We describe two new cases with the typical manifestations, report some new findings, review the relevant literature, and present minimal criteria for the diagnosis. A single homozygous WNT7A mutation was identified by Woods et al. [2006]: 1179C → T, resulting in Arg292Cys with complete loss of WNT7A function. © 2007 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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