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A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation
Joint Authors
Alsahlawi, Zahra
Jailani, Mohamed
Alaradi, Husain
AlAbbad, Abdulaziz
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-10-16
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Alsahlawi, Zahra& Jailani, Mohamed& Alaradi, Husain& AlAbbad, Abdulaziz. 2020. A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation. Case Reports in Pediatrics،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1150715
Modern Language Association (MLA)
Alsahlawi, Zahra…[et al.]. A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation. Case Reports in Pediatrics No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1150715
American Medical Association (AMA)
Alsahlawi, Zahra& Jailani, Mohamed& Alaradi, Husain& AlAbbad, Abdulaziz. A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation. Case Reports in Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1150715
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1150715