A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation
DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. In this case report, we describe the clinical features and genotype of a patient with a novel mutation 1...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2020/8820966 |
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| _version_ | 1832554526377246720 |
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| author | Zahra Alsahlawi Mohamed Jailani Husain Alaradi Abdulaziz AlAbbad |
| author_facet | Zahra Alsahlawi Mohamed Jailani Husain Alaradi Abdulaziz AlAbbad |
| author_sort | Zahra Alsahlawi |
| collection | DOAJ |
| description | DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. In this case report, we describe the clinical features and genotype of a patient with a novel mutation 1346C > A in WAC. This patient’s dysmorphic features include a prominent forehead, bulbous nasal tip, macroglossia, deep-set eyes, and malar hypoplasia. This patient also showed signs of intellectual disability and behavioral abnormalities such as night terrors. These findings are consistent with those described in earlier reports. Here, we report new findings of epilepsy and recurrent skin infections which had not been reported in prior studies. |
| format | Article |
| id | doaj-art-d802b00000344f298585e9b5a91e9a48 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-d802b00000344f298585e9b5a91e9a482025-02-03T05:51:16ZengWileyCase Reports in Pediatrics2090-68032090-68112020-01-01202010.1155/2020/88209668820966A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel MutationZahra Alsahlawi0Mohamed Jailani1Husain Alaradi2Abdulaziz AlAbbad3Department of Pediatrics, Salmaniya Medical Complex, Manama, BahrainSalmaniya Medical Complex, Manama, BahrainSalmaniya Medical Complex, Manama, BahrainSalmaniya Medical Complex, Manama, BahrainDeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. In this case report, we describe the clinical features and genotype of a patient with a novel mutation 1346C > A in WAC. This patient’s dysmorphic features include a prominent forehead, bulbous nasal tip, macroglossia, deep-set eyes, and malar hypoplasia. This patient also showed signs of intellectual disability and behavioral abnormalities such as night terrors. These findings are consistent with those described in earlier reports. Here, we report new findings of epilepsy and recurrent skin infections which had not been reported in prior studies.http://dx.doi.org/10.1155/2020/8820966 |
| spellingShingle | Zahra Alsahlawi Mohamed Jailani Husain Alaradi Abdulaziz AlAbbad A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation Case Reports in Pediatrics |
| title | A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation |
| title_full | A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation |
| title_fullStr | A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation |
| title_full_unstemmed | A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation |
| title_short | A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation |
| title_sort | case of desanto shinawi syndrome in bahrain with a novel mutation |
| url | http://dx.doi.org/10.1155/2020/8820966 |
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