Microcephaly with or without chorioretinopathy, lymphedema, and mental retardation syndrome as a rare cause of chorio-retinal atrophy in a young child – A case report and review of literature

A 15-month-old boy presented with congenital bilateral pedal edema, microcephaly, dysmorphic features, and characteristic chorioretinal lacunae on fundus examination. Whole exome sequencing revealed a de novo heterozygous deletion in the Kinesin Family Member-11 gene, confirmed by cDNA analysis. A diagnosis of microcephaly with or without chorioretinopathy, lymphedema, and mental retardation (MCLMR) syndrome was made based on syndromic presentation and genetic analysis. This case highlights the diagnostic value of genetic testing in children with chorioretinal atrophy and syndromic features for early recognition of MCLMR syndrome to enable multidisciplinary care.