title: Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome.
abstract: We describe a tall-statured 14-year-old boy who illustrated the full phenotypic and radiographic features of Stickler syndrome type I. A bone biopsy showed evidence of reduced bone mass and bone turnover, such as reduced BV/TV (-43%), TbTh (-29%), and OS/BS (-48%), Ob.S/BS (-27%), and Oc/BS (-47%) compared to "age-matched" controls. Moreover, there was evidence that the mineralization process was severely disturbed. Quantitative backscattered electron imaging revealed that the bone mineralization density distribution (BMDD) of cancellous (Cn) as well as cortical (Ct) bone was shifted toward lower mineralization compared to a young control reference cohort. BMDD parameters of mean degree of mineralization, Cn Ca (-9.8%) and Ct Ca (-18.0%), were dramatically decreased. To the best of our knowledge this is the first clinical report describing bone biopsy findings in a boy with Stickler syndrome. Such a severe undermineralization of bone matrix might essentially contribute to the compromised mechanical competence of the skeleton found in this patient.
authors.affiliation: Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, 4th Medical Department, Vienna, Austria. ali.alkaissi@osteologie.at
authors.forename: A
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: P
authors.initials: P
authors.lastname: Roschger
authors.forename: K
authors.initials: K
authors.lastname: Nawrot-Wawrzyniak
authors.forename: A
authors.initials: A
authors.lastname: Krebs
authors.forename: F
authors.initials: F
authors.lastname: Grill
authors.forename: K
authors.initials: K
authors.lastname: Klaushofer
mesh_terms: D000293:Adolescent; D001706:Biopsy; D015519:Bone Density / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000378:metabolism* / Q000503:physiopathology; D001857:Bone Matrix / Q000378:metabolism / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000378:metabolism* / Q000503:physiopathology; D002113:Calcification, Physiologic / Q000235:genetics*; D018450:Disease Progression; D056304:Genu Valgum / Q000209:etiology; D006801:Humans; D007738:Kyphosis / Q000209:etiology; D007866:Leg / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D010003:Osteoarthritis / Q000209:etiology; D010388:Pelvis / Q000000981:diagnostic imaging / Q000473:pathology; D011237:Predictive Value of Tests; D011379:Prognosis; D011859:Radiography; D012016:Reference Values; D012863:Skeleton; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology; D013577:Syndrome