Presentation
Previous cases of siblings with differing presentations at birth have been reported, but the extent of these differences is not as extreme as in our cases. [ochsnerjournal.org]
A family with three affected children is presented with a review of the literature. [ncbi.nlm.nih.gov]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
The first child was born at 36 weeks by cesarean section for breech presentation with oligohydramnios. [ashg.org]
Entire Body System
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Unable to Stand
Although the fractures healed uneventfully under conservative treatment, he was still unable to stand and walk because of the severe contractures of knees and curvature deformities of femora. [journals.plos.org]
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Turkish
In a study of a cohort of consanguineous Turkish families with moderately severe inherited OI, Alanay et al. (2010) found mutations in FKBP10 and determined that FKBP10 mutations affect type I procollagen secretion, identifying a previously unrecognized [bmcmedgenet.biomedcentral.com]
Respiratoric
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Aspiration
All MNC were isolated from bone marrow aspirates at iliac crest. MNC were seeded at a density of 1 105 per cm2 and were cultured for 24 h. After this period, non-adherent cells were removed by medium exchange. [bmcmedgenet.biomedcentral.com]
Ears
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Normal Hearing
In infancy and early childhood recurrent fractures of ribs and long bones and persistent Wormian bones in the calvarium are reminiscent of osteogenesis imperfecta (OI) even with white sclerae, normal dental quality and normal hearing as important clinical [ncbi.nlm.nih.gov]
Most but not all of the cases had normal teeth, white sclera, normal cognitive functions, and normal hearing. A few cases had dysmorphic features including triangular face and brachycephaly [13-19]. [journals.viamedica.pl]
Musculoskeletal
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Osteoporosis
The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures. The presence of arthrogryposis differentiates this syndrome from "classical" osteogenesis imperfecta. [ncbi.nlm.nih.gov]
Bachrach, Osteoporosis in Childhood and Adolescence, Osteoporosis, 10.1016/B978-0-12-415853-5.00043-1, (1037-1086), (2013). U. Schwarze, T. Cundy, S. M. Pyott, H. E. Christiansen, M. R. Hegde, R. A. Bank, G. Pals, A. Ankala, K. Conneely, L. [doi.org]
Clinical description Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature. Mental development is normal. [orpha.net]
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Decrease in Height
[…] body height Small stature [ more ] 0004322 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Wormian bones Extra bones within cranial sutures 0002645 Showing of 15 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare [rarediseases.info.nih.gov]
Neurologic
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Excitement
suppressing) the expression or enzyme activity of TLH provide an exciting avenue of novel antifibrotic drugs. [doi.org]
Treatment
She is now seven months of age, gaining weight and has had no additional fractures with the ongoing pamidronate treatment. [ncbi.nlm.nih.gov]
Bisphosphonate drugs are also an effective treatment. Resources - Bruck syndrome 1 [checkorphan.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
(A)–(B) BMD and Z score were increased at L2–L4 after bisphosphonates treatment. BMD and Z score at proximal femur was decreased after 16 months of ALN treatment but was significantly increased after 7 months of ZOL treatment. [journals.plos.org]
Prognosis
Prognosis - Bruck syndrome 1 Not supplied. Treatment - Bruck syndrome 1 Until more molecular and clinical studies are performed there will be no way to prevent the disease. Treatments are directed towards alleviating the symptoms. [checkorphan.org]
Prognosis: The prognosis often depends on the type of OI and thus the severity of the disease. Type I patients often have a normal life expectancy. [gwumc.edu]
This system is based on mode of inheritance, clinical picture, and radiologic appearance.The OI type descriptions provide some information to the clinician and family about a person’s prognosis, but they do not predict functional outcome. [mchorth.wordpress.com]
The prognosis for osteogenesis imperfecta depends on the type of OI; with outcomes varying from neonatal death in type II to relatively mild phenotypes in types I and IV, with a wide range of variation in between these two extremes. [clinicaladvisor.com]
Prognosis Although many individuals with FS are asymptomatic, others become symptomatic and may develop life-threatening infections. Pulmonary and skin infections are common. [emedicine.medscape.com]
Etiology
Etiology The syndrome is genetically heterogeneous: the locus was mapped to chromosome 17p12 in one family (Bruck syndrome 1) but mutations in the PLOD2 gene (3q24) encoding telopeptide lysyl hydroxylase (Bruck syndrome 2) have been identified in other [orpha.net]
Mutations in PLOD2 and FKBP10 can be a common etiology of BS, but future studies are needed to confirm the involvement of other genes in the heterogeneity of the phenotype. [bmcmedgenet.biomedcentral.com]
Failure of ossification or premature fusion of the Y-cartilage and failure of normal acetabular remodeling have been tentatively proposed as etiologic factors (Hooper and Jones 1971). [rrnursingschool.biz]
Epidemiology
Summary Epidemiology Prevalence is unknown but less than 40 cases have been reported in the literature so far. [orpha.net]
Epidemiology Prevalence is unknown but less than 40 cases have been reported in the literature so far. [malacards.org]
Epidemiology and aetiology of epilepsy in sub-saharan Africa. Lancet Neurol 2005;4:21-31. Cowan LD. The epidemiology of the epilepsies in children. Ment Retard Dev Disabil Res Rev 2002;8:171-81. Kaneko S, Okada M, Iwasa H, Yamakawa K, Hirose S. [saripediatri.org]
Shapiro, Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology, Osteogenesis Imperfecta, 10.1016/B978-0-12-397165-4.00002-2, (15-22), (2014). [doi.org]
Pathophysiology
[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.de]
Pathophysiology Although the pathophysiology of FS is not fully understood, evidence points to splenic sequestration and subsequent granulocyte destruction. [emedicine.medscape.com]
Diagnostic and pathophysiological relevance of autoantibodies to aquaporin-4 Principal investigators: Sven Jarius, Brigitte Wildemann Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disease of the central nervous system that predominantly [klinikum.uni-heidelberg.de]
Prevention
Mutation in PLOD2 alters the structure of telopeptide lysyl hydroxylase and prevents fibril formation of collagen type 1. [en.wikipedia.org]
Prevention - Bruck syndrome 1 Not supplied. Diagnosis - Bruck syndrome 1 Diagnosis of Bruck syndrome must distinguish the association of contractures and skeletal fragility. Ultrasound is used for prenatal diagnosis. [checkorphan.org]
Pterygia limited elbow extension to 90 degrees, and severe lower limb deformities prevented ambulation. He did not have blue sclerae, dentinogenesis imperfecta, or hearing loss. [ncbi.nlm.nih.gov]
Jannie D Hald, Evangelos Evangelou, Bente L Langdahl and Stuart H Ralston, Bisphosphonates for the Prevention of Fractures in Osteogenesis Imperfecta: Meta-Analysis of Placebo-Controlled Trials, Journal of Bone and Mineral Research, 30, 5, (929), (2015 [doi.org]
Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]