title: Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.
abstract: BACKGROUND
  Albright hereditary osteodystrophy (AHO) is a rare genetic disorder characterized by phenotypic abnormalities including brachydactyly/brachymetacarpia, short stature, and sc ossifications. Carpal tunnel syndrome (CTS) is a chief complaint in many patients with AHO.
  
  
  OBJECTIVE
  The objective of the study was to investigate the prevalence of CTS in patients with AHO.
  
  
  METHODS
  This was a cross-sectional study.
  
  
  METHODS
  The study was conducted at the Clinical Research Center (Institute of Clinical and Translational Medicine), Johns Hopkins University School of Medicine and Albright Clinic, Kennedy Krieger Institute.
  
  
  METHODS
  Thirty-three subjects with a diagnosis of AHO participated in the study.
  
  
  METHODS
  We assessed for the presence and location of hand tingling, numbness, pain, weakness, flick sign, difficulty with fine motor skills, severe hand or nail biting, and nocturnal symptoms in the setting of normocalcemia and a euthyroid state. Patients were considered to have CTS if they were positive for three of these symptoms. All subjects were analyzed for mutations in the GNAS gene.
  
  
  RESULTS
  Twenty-two subjects (67%) had a clinical diagnosis of CTS (95% confidence interval 0.48, 0.82). Twenty-eight of 33 subjects were confirmed to have mutations in GNAS, of whom 68% had CTS (95% confidence interval 0.48, 0.84). There were 14 children in this study; 36% had a clinical diagnosis of CTS. Body mass index, brachydactyly/brachymetacarpia, prior GH treatment, and specific GNAS mutations were not associated with CTS.
  
  
  CONCLUSIONS
  We report a high prevalence of CTS in both adults and children with AHO. The diagnosis of CTS should be considered when evaluating a patient with AHO because the intervention for CTS could improve overall function and quality of life in these patients.
authors.affiliation: Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Department ofPediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
authors.forename: Andrew W
authors.initials: AW
authors.lastname: Joseph
authors.forename: Ashley H
authors.initials: AH
authors.lastname: Shoemaker
authors.forename: Emily L
authors.initials: EL
authors.lastname: Germain-Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D002349:Carpal Tunnel Syndrome / Q000175:diagnosis* / Q000453:epidemiology* / Q000209:etiology; D002648:Child; D003430:Cross-Sectional Studies; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000453:epidemiology*; D006801:Humans; D006987:Hypesthesia / Q000453:epidemiology / Q000209:etiology; D008297:Male; D008875:Middle Aged; D010146:Pain / Q000453:epidemiology / Q000209:etiology; D015995:Prevalence; D011547:Pseudohypoparathyroidism