title: CHARGE and Joubert syndromes: are they a single disorder?
abstract: A patient with the CHARGE association (Coloboma of the eye, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or deafness) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and Joubert syndrome. The 2 syndromes have not been previously linked. We discuss their similarities and review the literature.
authors.affiliation: Department of Pediatrics, Loyola University-Chicago, Maywood, Illinois.
authors.forename: M
authors.initials: M
authors.lastname: Menenzes
authors.forename: S B
authors.initials: SB
authors.lastname: Coker
mesh_terms: D002531:Cerebellum / Q000002:abnormalities*; D002754:Choanal Atresia / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003103:Coloboma / Q000235:genetics*; D003456:Cryptorchidism / Q000235:genetics*; D003937:Diagnosis, Differential; D004828:Epilepsies, Partial / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome