A Patient Case of Malan Syndrome Involving 19p13.2 Deletion of with Longitudinal Follow-Up and Future Prospectives.

Malan syndrome is a rare overgrowth syndrome resulting from haploinsufficiency due to heterozygous loss-of-function mutations or microdeletions of on chromosome 19 at p13.2. Phenotypic presentation can vary but is characterized by macrocephaly, long and slender body habitus, skeletal abnormalities, and intellectual disability.