Schinzel-Giedion syndrome: Report of two sibs
| Autor: | F. Camarasa, R. Manzanares, X. Krauel, V. Cusi, J. Vila, J. Antich |
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| Rok vydání: | 1995 |
| Předmět: |
Male
medicine.medical_specialty Pediatrics Sister Malignancy Corpus callosum Internal medicine medicine Bilateral hydronephrosis Humans Abnormalities Multiple Family Sibling Genetics (clinical) Sacrococcygeal Region business.industry fungi Schinzel–Giedion syndrome Infant Newborn Teratoma Syndrome medicine.disease Endocrinology Face Agenesis Female business Sacrococcygeal teratoma |
| Zdroj: | American Journal of Medical Genetics. 59:96-99 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320590119 |
| Popis: | We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: “coarse face” with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this syndrome. Patient 2 died shortly after birth. © 1995 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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