title: Cornelia de Lange syndrome. Otolaryngologic manifestations.
abstract: Cornelia de Lange syndrome (CDLS) is characterized by multiple congenital malformations and mental retardation. New studies have documented otolaryngologic abnormalities. We examined 45 patients with CDLS. Virtually all had hearing loss, and most had impaired language development. Other otolaryngologic abnormalities, including external auditory canal stenosis and cleft palate, were also common. Because of the high incidence of otolaryngologic abnormalities, and the need for early intervention, it is important for otolaryngologists to recognize CDLS manifestations in the head and neck.
authors.affiliation: Department of Otolaryngology, Thomas Jefferson University, Philadelphia, Pa.
authors.forename: R T
authors.initials: RT
authors.lastname: Sataloff
authors.forename: J R
authors.initials: JR
authors.lastname: Spiegel
authors.forename: M
authors.initials: M
authors.lastname: Hawkshaw
authors.forename: J M
authors.initials: JM
authors.lastname: Epstein
authors.forename: L
authors.initials: L
authors.lastname: Jackson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000150:complications*; D003638:Deafness / Q000175:diagnosis / Q000209:etiology*; D003937:Diagnosis, Differential; D005069:Evaluation Studies as Topic; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis; D007805:Language Development Disorders / Q000209:etiology*; D008297:Male