An Infant With Congenital Micrognathia and Upper Airway Obstruction Diagnosed With Hutchinson-Gilford Progeria Syndrome Due to a Novel LMNA Mutation: Case Report and Literature Review

This case report describes an infant with Hutchinson-Gilford Progeria Syndrome (HGPS) caused by a novel LMNA mutation, initially presenting with congenital micrognathia and upper airway obstruction. The patient underwent successful bilateral mandibular distraction osteogenesis (MDO) surgery, which resolved the airway obstruction. Genetic testing identified a de novo LMNA mutation, expanding the known mutations associated with HGPS. Over a 12-month follow-up, the patient experienced no further dyspnea or organ complications. The report underscores the diagnostic challenges of HGPS, often mistaken for Pierre Robin sequence, and discusses the role of LMNA mutations in its pathogenesis. It also reviews current treatments, noting the limitations of Farnesylation inhibitors for this patient due to age and body surface area, and highlights the potential of gene editing and transcription blockade as future therapies.