Emergence of osteolysis as a new radiological feature in a case with a novel gene variant.

OBJECTIVES

Bone morphogenetic protein 2 () is essential for endochondral ossification, skeletal development, and bone homeostasis. Monoallelic loss-of-function variants in have been linked to short stature, facial dysmorphism, and skeletal anomalies, often accompanied by cardiac involvement. Here, we describe a 10-year-old girl with a novel heterozygous truncating variant, presenting with distinct facial features, short stature, and skeletal abnormalities, notably osteolysis in the phalanges.

CASE PRESENTATION

The patient was initially evaluated at six months of age due to hypotonia and dysmorphic facial features. At 10 years old, she presented with short stature and skeletal radiographs revealed osteolysis in multiple phalanges. Additional clinical evaluations, including echocardiography and metabolic studies, were unremarkable. Whole-exome sequencing identified a heterozygous truncating variant (c.440C>G; p.Ser147*) in .

CONCLUSIONS

This report identifies a novel nonsense variant and introduces osteolysis as a previously unrecognized phenotype. These findings highlight the necessity of longitudinal skeletal monitoring in BMP2-related conditions and underscore the importance of genetic evaluation in patients with subtle skeletal dysplasias to facilitate early diagnosis and management.