title: Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis.
abstract: We present two children with Desbuquois syndrome and characteristic facial appearance, and musculoskeletal and radiological findings. Two new complications of this syndrome are obstructive sleep apnea and severe cervical kyphosis.
authors.affiliation: Department of Genetics, Children's Hospital, Camperdown, Australia.
authors.forename: R F
authors.initials: RF
authors.lastname: Ogle
authors.forename: M J
authors.initials: MJ
authors.lastname: Wilson
authors.forename: K
authors.initials: K
authors.lastname: Kozlowski
authors.forename: D O
authors.initials: DO
authors.lastname: Sillence
mesh_terms: D000015:Abnormalities, Multiple; D002574:Cervical Vertebrae / Q000002:abnormalities; D004392:Dwarfism / Q000150:complications* / Q000151:congenital; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007593:Joint Instability / Q000150:complications; D007738:Kyphosis / Q000209:etiology*; D010009:Osteochondrodysplasias / Q000150:complications*; D012891:Sleep Apnea Syndromes / Q000209:etiology*; D013577:Syndrome