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A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation.

ABSTRACT: 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.

SUBMITTER: Alsahlawi Z

PROVIDER: S-EPMC7585648 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation.

Alsahlawi Zahra Z Jailani Mohamed M Alaradi Husain H AlAbbad Abdulaziz A

Case reports in pediatrics 20201016

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 ...[more]

PMID: 33123400

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