Am J Med Genet A. 2025 Sep 18:e64261. doi: 10.1002/ajmg.a.64261. Online ahead of print.
ABSTRACT
Mulchandani-Bhoj-Conlin syndrome is an extremely rare imprinting disorder caused by maternal uniparental disomy of chromosome 20, primarily characterized by intrauterine growth restriction, severe postnatal growth failure, and feeding difficulties. Here, we report a neonate diagnosed with Mulchandani-Bhoj-Conlin syndrome via whole exome sequencing and copy number variation analysis, which also identified a 0.26 Mb deletion on chromosome 8q23.3 affecting the TRPS1 gene, associated with Trichorhinophalangeal syndrome. We describe the clinical features and genetic findings of this infant, with the aim of contributing to a better understanding of these two rare diseases.
PMID:40964751 | DOI:10.1002/ajmg.a.64261
