Craniofacial features in osteogenesis imperfecta

a cephalometric study

Janna Waltimo-Siren, Marina Kolkka, Seppo Pynnönen, Kaija Kuurila, Ilkka Kaitila, Outi Kovero

    Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

    Sammanfattning

    Osteogenesis imperfecta (OI) is a heterogeneous group of connective tissue diseases that mainly manifest as bone fragility and skeletal deformity. In most families it segregates as a dominant trait and results from mutations in type I collagen genes. In this study we analyzed the size and form of the bony structures in heads of 59 consecutive patients with OI types I, III, or IV (Sillence classification), using lateral radiographs. Paired controls were matched for gender and age. The purpose was to obtain baseline information of craniofacial. development in OI patients that have not received bisphosphonate treatment. In OI type I we found smaller than normal linear measurements, indicating a general growth deficiency, but no remarkable craniofacial deformity. In OI types III and IV, the growth impairment was pronounced, and the craniofacial form was altered as a result of differential growth deficiency and bending of the skeletal head structures. We found strong support both for an abnormally ventral position of the sella region due to bending of the cranial base, and for a closing mandibular growth rotation. Vertical underdevelopment of the dentoalveolar structures and the condylar process were identified as the main reasons for the relative mandibular prognathism in OI. Despite of the widespread intervention with bisphosphonates, the facial growth impairment will probably remain characteristic for many OI patients, and their orthodontic treatment should be further developed. (C) 2005 Wiley-Liss, Inc.
    Originalspråkengelska
    TidskriftAmerican Journal of Medical Genetics. Part A
    Volym133A
    Utgåva2
    Sidor (från-till)142-150
    Antal sidor9
    ISSN1552-4825
    DOI
    StatusPublicerad - 2005
    MoE-publikationstypA1 Tidskriftsartikel-refererad

    Citera det här

    Waltimo-Siren, Janna ; Kolkka, Marina ; Pynnönen, Seppo ; Kuurila, Kaija ; Kaitila, Ilkka ; Kovero, Outi. / Craniofacial features in osteogenesis imperfecta : a cephalometric study. I: American Journal of Medical Genetics. Part A. 2005 ; Vol. 133A, Nr. 2. s. 142-150.
    @article{510aa03a32ff4889a0910f7a015ecb1c,
    title = "Craniofacial features in osteogenesis imperfecta: a cephalometric study",
    abstract = "Osteogenesis imperfecta (OI) is a heterogeneous group of connective tissue diseases that mainly manifest as bone fragility and skeletal deformity. In most families it segregates as a dominant trait and results from mutations in type I collagen genes. In this study we analyzed the size and form of the bony structures in heads of 59 consecutive patients with OI types I, III, or IV (Sillence classification), using lateral radiographs. Paired controls were matched for gender and age. The purpose was to obtain baseline information of craniofacial. development in OI patients that have not received bisphosphonate treatment. In OI type I we found smaller than normal linear measurements, indicating a general growth deficiency, but no remarkable craniofacial deformity. In OI types III and IV, the growth impairment was pronounced, and the craniofacial form was altered as a result of differential growth deficiency and bending of the skeletal head structures. We found strong support both for an abnormally ventral position of the sella region due to bending of the cranial base, and for a closing mandibular growth rotation. Vertical underdevelopment of the dentoalveolar structures and the condylar process were identified as the main reasons for the relative mandibular prognathism in OI. Despite of the widespread intervention with bisphosphonates, the facial growth impairment will probably remain characteristic for many OI patients, and their orthodontic treatment should be further developed. (C) 2005 Wiley-Liss, Inc.",
    author = "Janna Waltimo-Siren and Marina Kolkka and Seppo Pynn{\"o}nen and Kaija Kuurila and Ilkka Kaitila and Outi Kovero",
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    Craniofacial features in osteogenesis imperfecta : a cephalometric study. / Waltimo-Siren, Janna; Kolkka, Marina; Pynnönen, Seppo; Kuurila, Kaija; Kaitila, Ilkka; Kovero, Outi.

    I: American Journal of Medical Genetics. Part A, Vol. 133A, Nr. 2, 2005, s. 142-150.

    Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

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    T1 - Craniofacial features in osteogenesis imperfecta

    T2 - a cephalometric study

    AU - Waltimo-Siren, Janna

    AU - Kolkka, Marina

    AU - Pynnönen, Seppo

    AU - Kuurila, Kaija

    AU - Kaitila, Ilkka

    AU - Kovero, Outi

    PY - 2005

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    N2 - Osteogenesis imperfecta (OI) is a heterogeneous group of connective tissue diseases that mainly manifest as bone fragility and skeletal deformity. In most families it segregates as a dominant trait and results from mutations in type I collagen genes. In this study we analyzed the size and form of the bony structures in heads of 59 consecutive patients with OI types I, III, or IV (Sillence classification), using lateral radiographs. Paired controls were matched for gender and age. The purpose was to obtain baseline information of craniofacial. development in OI patients that have not received bisphosphonate treatment. In OI type I we found smaller than normal linear measurements, indicating a general growth deficiency, but no remarkable craniofacial deformity. In OI types III and IV, the growth impairment was pronounced, and the craniofacial form was altered as a result of differential growth deficiency and bending of the skeletal head structures. We found strong support both for an abnormally ventral position of the sella region due to bending of the cranial base, and for a closing mandibular growth rotation. Vertical underdevelopment of the dentoalveolar structures and the condylar process were identified as the main reasons for the relative mandibular prognathism in OI. Despite of the widespread intervention with bisphosphonates, the facial growth impairment will probably remain characteristic for many OI patients, and their orthodontic treatment should be further developed. (C) 2005 Wiley-Liss, Inc.

    AB - Osteogenesis imperfecta (OI) is a heterogeneous group of connective tissue diseases that mainly manifest as bone fragility and skeletal deformity. In most families it segregates as a dominant trait and results from mutations in type I collagen genes. In this study we analyzed the size and form of the bony structures in heads of 59 consecutive patients with OI types I, III, or IV (Sillence classification), using lateral radiographs. Paired controls were matched for gender and age. The purpose was to obtain baseline information of craniofacial. development in OI patients that have not received bisphosphonate treatment. In OI type I we found smaller than normal linear measurements, indicating a general growth deficiency, but no remarkable craniofacial deformity. In OI types III and IV, the growth impairment was pronounced, and the craniofacial form was altered as a result of differential growth deficiency and bending of the skeletal head structures. We found strong support both for an abnormally ventral position of the sella region due to bending of the cranial base, and for a closing mandibular growth rotation. Vertical underdevelopment of the dentoalveolar structures and the condylar process were identified as the main reasons for the relative mandibular prognathism in OI. Despite of the widespread intervention with bisphosphonates, the facial growth impairment will probably remain characteristic for many OI patients, and their orthodontic treatment should be further developed. (C) 2005 Wiley-Liss, Inc.

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