Multiple airway abnormalities in a patient with Rothmund-Thomson syndrome.
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.
Hafidh
Maky A
MA
Department of Paediatric Otolaryngology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. maky@esatclear.ie
Sheahan
Patrick
P
Russell
John D
JD
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