title: Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?
abstract: This case report describes a 4 year old boy with the unique triad of lipomatous myelomeningocele, congenital hypothyroidism secondary to thyroid agenesis, and sensorineural deafness. While associations between deafness and abnormal thyroid function and deafness and sacral lipoma have previously been described, the constellation of findings in this patient has not been reported.
authors.affiliation: Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: H L
authors.initials: HL
authors.lastname: Peters
authors.forename: A
authors.initials: A
authors.lastname: Bankier
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology; D002675:Child, Preschool; D003638:Deafness / Q000503:physiopathology; D006801:Humans; D007037:Hypothyroidism / Q000503:physiopathology; D008067:Lipoma / Q000503:physiopathology; D008297:Male; D008591:Meningomyelocele / Q000503:physiopathology; D013577:Syndrome