title: Bone mineral status and metabolism in patients with Williams-Beuren syndrome.
abstract: OBJECTIVE
  To evaluate bone mineral status and metabolism in a cohort of patients with Williams-Beuren syndrome (WBS).
  
  
  METHODS
  Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WBS were cross-sectionally evaluated and compared with two age-, sex-, and body-size-matched paediatric (155 subjects, 75 females and 80 males; mean age 9.7±2.93 years) and adult (50 subjects, 30 females and 20 males; mean age 22.3±5.42 years) healthy controls.
  
  
  METHODS
  We evaluated ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels, and urinary deoxypyridinoline concentrations. We also calculated the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT) z-scores.
  
  
  RESULTS
  WBS patients showed a significantly reduced AD-SoS z-score (p <0.001) and BTT z-score (p <0.001) compared with the controls. This finding persisted when we divided the sample into paediatric and adult patients. WBS patients also had significantly higher ionised (p <0.001) and total calcium (p <0.001) levels as well as higher PTH levels (p <0.001) compared with the controls. Furthermore, WBS children and adolescents had significantly lower serum osteocalcin levels (p <0.001) and urinary deoxypyridinoline concentrations (p <0.001) than controls.
  
  
  CONCLUSIONS
  WBS subjects exhibit a significant reduction in bone mineral status and impaired bone metabolism. These findings point to the need for close monitoring of WBS patients.
authors.affiliation: Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy. stefano.stagi@yahoo.it.
authors.forename: Stefano
authors.initials: S
authors.lastname: Stagi
authors.affiliation: Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Manoni
authors.affiliation: Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy.
authors.forename: Perla
authors.initials: P
authors.lastname: Scalini
authors.affiliation: Department of Paediatrics, University of Chieti, Chieti, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.affiliation: Department of Paediatrics, University of L'Aquila, L'Aquila, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.affiliation: Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Cecchi
authors.affiliation: Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lapi
authors.affiliation: Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giglio
authors.affiliation: Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Romano
authors.affiliation: Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: de Martino
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D015415:Biomarkers / Q000097:blood / Q000652:urine; D015519:Bone Density; D016723:Bone Remodeling; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000378:metabolism*; D016022:Case-Control Studies; D002648:Child; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008297:Male; D010024:Osteoporosis / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology* / Q000652:urine; D011237:Predictive Value of Tests; D011379:Prognosis; D012307:Risk Factors; D018980:Williams Syndrome / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D055815:Young Adult
chemical_list: D015415:Biomarkers