IntroductionMosaic Variegated Aneuploidy Syndrome 2 (MVA2) is a rare genetic disorder characterized by a variable percentage (25–50%) of constitutional mosaic aneuploidies. To our knowledge, only 15 cases worldwide with only 1 Indian family and six pathogenic variants of MVA2 have been described.Clinical featuresWe now report a 2nd Indian family with two female siblings who presented with short stature, dysmorphism, microcephaly, and a history of consanguinity.Diagnosis and interventionKaryotyping was reported to be normal (46, XX) in both siblings. Whole exome and Sanger sequencing revealed a homozygous c.1388_1391del(p.Lys463IlefsTer3) in exon 11 in the CEP57 gene (NM_014679.5), a novel variant that leads to the termination of protein translation causing MVA2. Testing of a phenotypically typical sibling showed a heterozygous status for the identified variant.ConclusionThis report highlights an important lesson for genetic testing. Our findings enrich the CEP57 mutational spectrum and emphasize the importance of genetic testing and karyotyping in patients with microcephaly and short stature.