Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome

Discussion: We suggest that the presence of bilateral fibular agenesis and the apparent image of preaxial polydactyly of the feet on prenatal ultrasound should alert suspicion to Du Pan syndrome, with the latter possibly being a sonographic pitfall. Alongside the fetal imaging, a detailed clinical examination of the expectant parents is also of great importance in establishing a preliminary diagnosis of Du Pan syndrome, as well as the other GDF5-BMPR1B-associated chondrodysplasias.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research