Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.

ABSTRACT:

Background

MOMO syndrome is a rare disorder with variable presentation and unknown etiology belonging to the overgrowth syndromes group.

Case presentation

The authors describe a patient presenting with severe developmental delay, absent speech, autism spectrum disorder, central nervous system malformations, bilateral optic atrophy, and postnatal overgrowth, besides a dysmorphic and progressive coarse face. A clinical diagnosis of MOMO syndrome was proposed, but he developed megaesophagus, megacolon, paraparesis, and severe acne during the clinical follow-up, which are not described in this condition. Whole-genome sequencing detected a deletion of 11.9 Mb at 3q13.2q21.2 comprising 80 genes, including the ZBTB20 gene associated with Primrose syndrome.

Conclusion

SUBMITTER: de Oliveira-Sobrinho RP 

PROVIDER: S-EPMC11614443 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature