A Case of Male Goltz Syndrome
Title: | A Case of Male Goltz Syndrome |
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Authors: | Bhaswati Ghoshal, Subhrajit Lahiri, Debabrata Nandi |
Source: | Case Reports in Pediatrics, Vol 2012 (2012) |
Publisher Information: | Wiley, 2012. |
Publication Year: | 2012 |
Collection: | LCC:Pediatrics |
Subject Terms: | Pediatrics, RJ1-570 |
More Details: | We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported. |
Document Type: | article |
File Description: | electronic resource |
Language: | English |
ISSN: | 2090-6803 2090-6811 |
Relation: | https://doaj.org/toc/2090-6803; https://doaj.org/toc/2090-6811 |
DOI: | 10.1155/2012/728509 |
Access URL: | https://doaj.org/article/2ed8d7be6a46452d88ab35436226c765 |
Accession Number: | edsdoj.2ed8d7be6a46452d88ab35436226c765 |
Database: | Directory of Open Access Journals |
ISSN: | 20906803 20906811 |
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DOI: | 10.1155/2012/728509 |
Published in: | Case Reports in Pediatrics |
Language: | English |