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Scholars Journal of Medical Case Reports | Volume-12 | Issue-05
A Novel Variant of CACNA1C Subtype Related Disorders: A Neonate with Dysmorphism and Distal Skeletal Defects
Yunis A. Mohamed, Maha Mubarak, Jaber Alfaifi, Anees Ghassan, Hani Hassan, Naziha Elreih, Osama A. Ibrahim
Published: May 3, 2024 | 116 83
DOI: 10.36347/sjmcr.2024.v12i05.005
Pages: 596-598
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Abstract
The mutation of CACNA1C gene on chromosome 12p13, has known to be associated with disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS). We report neonate with a novel variant of CACNA1C subtype related disorder with dysmorphisms and distal skeletal dysplasia.