Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.
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ABSTRACT:
SUBMITTER: Wojcik MH
PROVIDER: S-EPMC6663627 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Publications
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.
Wojcik Monica H MH Linnea Kate K Stoler Joan M JM Rappaport Leonard L
American journal of medical genetics. Part A 20190510 8
Alazami syndrome, caused by biallelic pathogenic variants in LARP7, is a recently-described rare genetic disorder, with 17 patients currently reported in the literature. We present a case of a male infant referred for genetics evaluation at 5 months of age, found at 17 months of age to have Alazami syndrome. He was promptly referred for developmental evaluation, where he was found to be higher functioning than prior reports of individuals with this condition. This demonstrates the neurodevelopme ...[more]
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