نتایج جستجو برای: achondroplasia
تعداد نتایج: 658 فیلتر نتایج به سال:
Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several human skeletal dysplasias, including the most common form of dwarfism, achondroplasia. Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cy...
Neurological symptoms, evaluation and treatment in Danish patients with achondroplasia and hypochondroplasia Mia Aagaard Doherty1,2*, Niels Thomas Hertel3, Hanne Buciek Hove4 and Annette Haagerup1,2,5* 1NIDO|Danmark, Hospitalsenheden Vest RM, Denmark 2Centre for Rare Diseases, Department of Paediatrics, Aarhus University Hospital, Denmark 3Department of Paediatrics, H.C. Andersen Children’s Hos...
An inflammatory pseudotumour of the lung in an achondroplastic woman is described. The occurrence of both conditions in the same patient probably represents a coincidental finding. However, recurrent pulmonary infections, as frequently seen in achondroplasia, may be relevant, because a history of antecedent infection is noted in one third of cases of inflammatory pseudotumours. Despite extensiv...
We report a case of spinal stenosis with ossification of the thoracic ligamentum flavum in a 53-year-old man with achondroplasia. Neurological signs indicated flaccid paralysis below L1, and the patient was unable to walk. Ossification of the ligamentum flavum was observed at T4/5 and T9 to T12, compressing the thecal sac. Laminectomy of T9 to L1 was performed. At one-year follow-up, the patien...
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