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

Abstract 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.