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Abstract

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CAMRQ4) is a heterogenous group of genetic disorders that have been grouped based on their shared clinical features. CAMRQ4 should be suspected in patients presenting with ataxia, mental retardation, hypotonia, microcephaly, choreoathetoid movements or chorea, ophthalmoplegia, and global developmental delay, even if brain magnetic resonance imaging appears to be normal. We describe a family for whom reverse phenotyping played a crucial role in achieving the correct diagnosis of CAMRQ4 in the index child and prenatal diagnosis for the subsequent pregnancy. We describe the multidisciplinary approach that was followed during the pandemic, ensuring that the family was appropriately guided and informed.

Keywords

SARS-CoV-2 pandemic reverse phenotyping CAMRQ4 syndrome prenatal diagnosis multidisciplinary telehealth approach

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Impact of COVID-19 Pandemic on a Multidisciplinary Approach to Reverse Phenotyping: A Case Report on Prenatal Diagnosis of CAMRQ Type 4 Syndrome

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