Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis.
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.
Ogle
R F
RF
Department of Genetics, Children's Hospital, Camperdown, Australia.
Wilson
M J
MJ
Kozlowski
K
K
Sillence
D O
DO
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