A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.
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| Title: | A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement. |
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| Authors: | Decio, Alice (AUTHOR), Marelli, Susan (AUTHOR), Mambretti, Fabiana (AUTHOR), Bassi, Maria Teresa (AUTHOR), D'Angelo, Maria Grazia (AUTHOR) |
| Source: | Neurological Sciences. Aug2024, Vol. 45 Issue 8, p4077-4081. 5p. |
| Subjects: | Arthrogryposis, Type 2 diabetes, Syndromes |
| Abstract: | This article discusses a case of Wieacker-Wolff syndrome (WRWS), an ultra-rare X-linked disorder characterized by congenital multiplex arthrogryposis (CMA), in a female patient. WRWS is caused by pathogenic variants in the ZC4H2 gene, which is involved in nervous system development. The syndrome is associated with a wide range of symptoms, including neurological, endocrinological, and cardiac involvement. This case report highlights the multisystemic nature of the syndrome and suggests that heart assessment should be included in the follow-up of female patients. [Extracted from the article] |
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| Database: | Psychology and Behavioral Sciences Collection |
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| Abstract: | This article discusses a case of Wieacker-Wolff syndrome (WRWS), an ultra-rare X-linked disorder characterized by congenital multiplex arthrogryposis (CMA), in a female patient. WRWS is caused by pathogenic variants in the ZC4H2 gene, which is involved in nervous system development. The syndrome is associated with a wide range of symptoms, including neurological, endocrinological, and cardiac involvement. This case report highlights the multisystemic nature of the syndrome and suggests that heart assessment should be included in the follow-up of female patients. [Extracted from the article] |
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| ISSN: | 15901874 |
| DOI: | 10.1007/s10072-024-07457-0 |
