Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of connective tissue that begins during the first decade of life. Our patient presented with intrauterine growth retardation, respiratory distress, neonatal onset soft tissue masses, bilateral hallux valgus, and congenital anomalies of the...

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• Activin Receptors, Type I
• Exome
• Fatal Outcome
• Fetal Growth Retardation
• Myositis Ossificans