ARTROGRIPOSE CONGENITA PDF

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. 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. 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 affected individuals. Other search option s Alphabetical list.

Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Disease definition Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. Summary Epidemiology Prevalence is unknown but less than 40 cases have been reported in the literature so far.

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. 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 affected individuals.

Genetic counseling Transmission is autosomal recessive. Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Publications in PubMed Other website s 1. Health care resources for this disease Expert centres Diagnostic tests 34 Patient organisations 36 Orphan designation s and orphan drug s 0.

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Arthrogryposis

Characterization of a group unrelated patients with arthrogryposis multiplex congenita. Directory of Open Access Journals Sweden. Full Text Available Objective: Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of — newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita. Methods: Patients were diagnosed by physical and radiographic examination and the family history was evaluated. Results: Of the 50 cases, nine presented other features pectum excavatum, cleft palate, mental retardation, ulnar agenesis, etc.. Environmental factors, as well as prenatal and family history, were analyzed.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature.

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