A family with three affected children is presented with a review of the literature.[ncbi.nlm.nih.gov]
We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum. The clinical and genetic features of all previously reported cases are also reviewed.[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]
The present study shows for the first time that genes involved in osteogenesis are differentially expressed in BS and OI patients.[ncbi.nlm.nih.gov]
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]
The X-ray films also revealed severe generalized osteoporosis with wormian bone in cranium, multiple vertebral compression fractures with rotation kyphoscoliosis, collapsed right thoracic cage, deformity of pelvis, slender long bone with thin cortices[journals.plos.org]
The baby died at 2 months of age due to respiratorydistress. X-ray films were sent to the International Skeletal Dysplasia Registry through Cedars-Sinai Medical Center.[ashg.org]
Renal tubular disorders and renal stone disease 168 Clinical 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[books.google.de]
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 normalhearing as important clinical[ncbi.nlm.nih.gov]
Most but not all of the cases had normal teeth, white sclera, normal cognitive functions, and normalhearing. A few cases had dysmorphic features including triangular face and brachycephaly [13-19].[journals.viamedica.pl]
She is now seven months of age, gaining weight and has had no additional fractures with the ongoing pamidronate treatment.[ncbi.nlm.nih.gov]
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]
Bisphosphonate drugs are also an effective treatment. Resources - Bruck syndrome 1[checkorphan.org]
Treatments are directed towards alleviating the symptoms. To treat the disease it is crucial to diagnose it properly. [6] Orthopedic therapy and fracture management are necessary to reduce the severity of symptoms.[en.wikipedia.org]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
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]
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]
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004; 127 (Pt 11) :2533–2539. [ PubMed ] [ Google Scholar ] 4. Dichgans M., Mayer M., Uttner I., et al.[ncbi.nlm.nih.gov]
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]
Maternal uniparental disomy for chromosome 7 is known to play a role in its etiology.[icd10data.com]
Ongoing controversies regarding etiology, diagnosis, treatment N/A Copyright 2017, 2013 Decision Support in Medicine, LLC. All rights reserved.[clinicaladvisor.com]
Etiology Risk factors for FS include the following: RF positivity in high titers Long-standing disease Aggressive and erosive synovitis – Patient with FS may present with mild RA, but FS is clearly associated with severe disease and extra-articular manifestations[emedicine.medscape.com]
Etiology It usually occurs due to absence of active fetal movements (akinesia), normally appearing in the eighth week of fetal life Fetal akinesia lasting over 3 weeks may be sufficient to result in absence of normal stretching of muscles and tendons[slideshare.net]
Summary Epidemiology Prevalence is unknown but less than 40 cases have been reported in the literature so far.[orpha.net]
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]
[…] clearly associated with severe disease and extra-articular manifestations Human leukocyte antigen (HLA)-DR4 positivity and DR4 homozygosity – This may be due to the presence of HLA-DR4 in patients who have severe disease Extra-articular RA manifestations Epidemiology[emedicine.medscape.com]
Part 2: Epidemiology, clinical presentation, radiological and laboratory features, treatment, and long-term outcome. J Neuroinflammation 2016 Okt 27;13(1):280.[klinikum.uni-heidelberg.de]
[…] 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 - 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]
Mutation in PLOD2 alters the structure of telopeptide lysyl hydroxylase and prevents fibril formation of collagen type 1.[en.wikipedia.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]