Klinik und Genetik der Osteogenesis imperfecta<sup>*</sup>

Langness, U; Behnke, Horst

doi:10.1055/s-0028-1108437

Cited by 11 publications

(2 citation statements)

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“…Blue sclerae, myopia, embryotoxon and keratoconus are known ocular complications [1,7,12]; conductive and sensoneural deafness are other extraskeletal manifestations [2,17]. Joint laxity or contractures, hyperplastic scar formation and increased capillary fragility can be additional problems [11,21,22].…”

Section: Introductionmentioning

confidence: 99%

Osteogenesis imperfecta in childhood: cardiac and renal manifestations

et al. 1989

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We examined 58 children aged 1-16 years with various forms of osteogenesis imperfecta (OI). Congenital cardiac malformations were diagnosed in 4 children (valvular aortic stenosis, 2 with atrial septal defect II, Fallot Tetralogy). Two additional children developed holosystolic mitral valve prolapse and regurgitation. Children suffering from a severe clinical course (type III according to the Sillence classification) showed aortic root dilatation (28%) and increased septal (40%) and posterior left ventricular wall thickening (68%) on initial evaluation. All three parameters were significantly correlated to body surface area. Kidney stones and renal papillary calcifications were detected in 4 children. Cardiovascular abnormalities and nephrolithiasis may be important extraskeletal manifestations of childhood OI.

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Section: Introductionmentioning

confidence: 99%

Osteogenesis imperfecta in childhood: cardiac and renal manifestations

et al. 1989

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“…There are several studies describing excessive bleeding due to surgery in OI patients, despite normal pre-operative haematological assessment. Wong et al reported bleeding complications despite normal preoperative coagulation studies in 30% of the study participants (7 out of 23) and Langness and Behnke et al in 11% of the study participants (9 out of 80) [ 24 , 25 ]. A recent study of Rothschild et al reported significant intraoperative blood loss in 17% of 205 surgeries among 83 OI patients without link to coagulation disorders [ 26 ].…”

Section: Discussionmentioning

confidence: 99%

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta

Gooijer,

Heidsieck,

Harsevoort

et al. 2024

Orphanet J Rare Dis

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Background Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported. This paper describes the diverse manifestations of bleeding and bruising in a large cohort of 328 OI patients. The aim of this study is to provide insight in the diverse aspects and therapeutic considerations of bleedings in OI. Methods This descriptive cohort study was conducted at the National Expert Center for adults with OI in the Netherlands. Bleeding was assessed by the validated self-bleeding assessment tool (Self-BAT) The tool was distributed among 328 adults with different clinically confirmed types of OI. Results 195 of 328 invited patients (completion rate 60%) with OI type 1 (n = 144), OI type 3 (n = 17) and OI type 4 (n = 34), aged between 18 and 82 years, completed the tool. Self-BAT scores were above the normal range in 42% of all patients. For males Self-BAT scores were increased in 37% with a mean score of 3.7, ranged between 0 and 18. For females the Self-BAT scores were increased in 44% with a mean of 5.4 and a range of 0–24. No statistical differences in OI subtypes were found. Conclusions Bleeding tendency appears to be a relevant complication in OI patients as this study confirms the presumption of bleeding tendency. There are specific recommendations to clinicians who treat OI patients to consider an assessment of bleeding tendency and use potential interventions to reduce haemorrhagic complications and improve quality of life.

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Osteogenesis Imperfecta

Shoenfeld¹

1975

Am J Dis Child

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Twelve families with 29 patients showing various patterns of osteogenesis imperfecta are described, along with the genetic, pathological, and clinical features. No abnormal blochemical features were found. It has been shown that the best treatment is prophylactic (such as intramedullary nailingy or supportive. There was no remarkable improvement from any form of medical treatment. These data are compared to those of other authors.

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Klinik und Genetik der Osteogenesis imperfecta^*

Cited by 11 publications

References 1 publication

Osteogenesis imperfecta in childhood: cardiac and renal manifestations

Osteogenesis imperfecta in childhood: cardiac and renal manifestations

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta

Osteogenesis Imperfecta

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Klinik und Genetik der Osteogenesis imperfecta*

Cited by 11 publications

References 1 publication

Osteogenesis imperfecta in childhood: cardiac and renal manifestations

Osteogenesis imperfecta in childhood: cardiac and renal manifestations

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta

Osteogenesis Imperfecta

Contact Info

Product

Resources

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Klinik und Genetik der Osteogenesis imperfecta^*