title: Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome.
abstract: Although micrognathia and cleft palate have been reported in patients with Lymphedema-distichiasis syndrome (LDS), the classic Robin sequence with glossoptosis and airway obstruction has not been previously described in patients with genetically confirmed LDS. Here we report on two female siblings with LDS confirmed by aFOXC2mutation who presented at birth with severe airway obstruction related to Robin sequence. Respiratory obstruction was successfully managed by early distraction osteogenesis. Our report highlights the unusual occurrence of Robin sequence in LDS patients and advises distraction osteogenesis to resolve breathing problems in LDS patients who present with Robin related severe airway obstruction.
authors.affiliation: Pediatric Emergency and PICU, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Papoff
authors.affiliation: Medical Genetics, Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.affiliation: Department of Radiology, Sapienza University of Rome, Rome, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Manganaro
authors.affiliation: Pediatric Emergency and PICU, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Midulla
authors.affiliation: Pediatric Emergency and PICU, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy.
authors.forename: Corrado
authors.initials: C
authors.lastname: Moretti
authors.affiliation: Department of Maxillofacial Surgery, Sapienza University of Rome, Rome, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Cascone
keywords: Airway obstruction; FOXC2; Lymphedema–distichiasis; Magnetic resonance imaging; Mandibular distraction; Pierre Robin sequence