- The mother of a three-month-old girl with bilateral congenital hallux valgus, informed via the internet and social networks of the possibility that her daughter had fibrodysplasia ossificans progressiva (FOP), consulted a bone disease reference centre.
- Pending the sequencing of the girl’s entire genome, precautions linked to the risk of FOP, such as suspending the vaccination programme, were taken.
- Genetic analysis revealed a heterozygous variant of uncertain significance in the BMPR1B gene, which codes for a bone morphogenetic receptor involved in bradydactyly syndromes and acromesomelic dysplasia, but no variant in the ACVR1 gene.
Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction. Shirodkar D, Smithson SF, Keen R et al. BMC Med Genomics. 2024 Jun 15;17(1):160.
