title: Multiple airway abnormalities in a patient with Rothmund-Thomson syndrome.
abstract: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is characterized by skin manifestations, juvenile cataracts, and extracutaneous manifestations. The presence of congenital airway abnormalities has not previously been documented in Rothmund-Thomson syndrome. We report the case of a child with Rothmund-Thomson syndrome suffering from multiple airway abnormalities. Our case highlights the importance of suspecting multiple airway abnormalities in any child with respiratory distress with other systemic anomalies. This necessitates meticulous anatomical and dynamic examination of the laryngotracheo-broncheal tree.
authors.affiliation: Department of Paediatric Otolaryngology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. maky@esatclear.ie
authors.forename: Maky A
authors.initials: MA
authors.lastname: Hafidh
authors.forename: Patrick
authors.initials: P
authors.lastname: Sheahan
authors.forename: John D
authors.initials: JD
authors.lastname: Russell
mesh_terms: D000402:Airway Obstruction / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D007828:Laryngoscopy; D007829:Laryngostenosis / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D007830:Larynx / Q000002:abnormalities / Q000473:pathology; D008297:Male; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications; D012141:Respiratory Tract Infections / Q000209:etiology / Q000601:surgery; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D014138:Tracheoesophageal Fistula / Q000150:complications / Q000151:congenital* / Q000601:surgery; D014139:Tracheostomy; D014826:Vocal Cord Paralysis / Q000209:etiology* / Q000473:pathology / Q000601:surgery