Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman

Mandibular hypoplasia, deafness, progeroid feature, and lipodystrophy syndrome (MDPL, MIM# 615381) is an extremely rare and recently recognized early adult onset of progeroid syndrome, with features of generalized lipodystrophy, dysmorphic features, telangiectasia, early onset hearing loss, insulin resistance, and dyslipidemia. Here, we present a 31-year-old Chinese woman with MDPL, harboring the recurrent pathogenic variant p.(Ser605del) in POLD1, illustrating the evolving manifestations of this premature aging disorder from infancy to adulthood.

Automated summary

Mandibular hypoplasia, deafness, progeroid feature, and lipodystrophy syndrome (MDPL) is a rare condition characterized by features such as lipodystrophy, dysmorphic features, and early onset hearing loss. This case report highlights the evolving manifestations of MDPL from childhood to adulthood in a 31-year-old Chinese woman with a specific pathogenic variant in the POLD1 gene.