Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour
| Autor: | J. Pritchard, M. Robards, M. Baraitser, R. G. Grundy, A. Risdon |
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| Rok vydání: | 1992 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Beckwith-Wiedemann Syndrome Wilms tumour Diagnostico diferencial Beckwith–Wiedemann syndrome Autopsy Wilms Tumor Diagnosis Differential Pregnancy Cryptorchidism medicine Humans Perlman syndrome business.industry Infant Newborn Wilms' tumor Syndrome medicine.disease Dermatology Kidney Neoplasms Wiedemann-Beckwith syndrome Face Pediatrics Perinatology and Child Health Female business |
| Zdroj: | European Journal of Pediatrics. 151:895-898 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/bf01954125 |
| Popis: | Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report two siblings, initially diagnosed as having Wiedemann-Beckwith syndrome, in whom the correct diagnosis of Perlman syndrome was made only after an autopsy on the second child. By comparing and contrasting the features of Perlman and Wiedemann-Beckwith syndromes in this report we hope to make it easier to distinguish the two conditions. |
| Databáze: | OpenAIRE |
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