Goltz syndrome with absence of fifth metacarpal and distal phalanx, severe abdominal dehiscence and bladder exstrophy
| Autor: | Smita Rani Samal, Manas Ranjan Puhan, Prasenjeet Mohanty, Bharati Sahu |
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| Rok vydání: | 2016 |
| Předmět: |
medicine.medical_specialty
business.industry lcsh:RJ1-570 Genodermatosis syndactyly lcsh:Pediatrics Anatomy osteopathia striata lcsh:RL1-803 Phalanx Dehiscence medicine.disease Focal dermal hypoplasia Surgery Osteopathia striata Bladder exstrophy Dysplasia lcsh:Dermatology Medicine Goltz syndrome Syndactyly business |
| Zdroj: | Indian Journal of Paediatric Dermatology, Vol 17, Iss 4, Pp 303-305 (2016) |
| ISSN: | 2319-7250 |
| Popis: | Goltz syndrome, also known as focal dermal hypoplasia, is a rare genodermatosis. It is an X-linked dominant disorder characterized by mesoectodermal dysplasia present with cutaneous, ocular, dental, and skeletal defects. Its hallmark is thinning of the dermis resulting subcutaneous fat herniation. We report a case of a 7-month-old female child with typical clinical features of Goltz syndrome with some unusual findings such as severe abdominal dehiscence, bladder exstrophy, and absence of the fifth metacarpal and distal phalanx. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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