Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The primary hypertrophic osteoarthropathy (pachydermoperiostosis) is a hereditary disease characterized by skin thickening (pachydermia), finger clubbing, and proliferation of periosteum (periostitis) with subperiosteal new bone formation. We describe the cases of two brothers of 30 and 24 years, who consulted due to bone pain, arthralgia and oligoarthritis. Pachydermia, hyperhidrosis, seborrhea, digital clubbing, periostosis and non-inflammatory effusions of the knees. The first had been diagnosed with juvenile idiopathic arthritis at age 15, while the youngest also presented with a thoracic scoliosis, hypertrophic gastritis, iron deficiency anemia and glucose intolerance by pancreatic endocrine dysfunction. In both patients, symptoms were controlled satisfactorily with etoricoxib (90mg/day) and risedronate (35mg/week).
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PMID:[Primary hypertrophic osteoarthropathy (pachydermoperiostosis). Report of two familial cases and literature review]. 2179 26

An 18 yr old female referred to us as hypertrophic obstructive cardiomyopathy with bicuspid aortic valve. On Initial history and examination patient also had primary amenorrhoea, differential cyanosis in lower limbs, differential clubbing, polydactyly, syndactyly, high arched foot, pectus carinatum and scoliosis. Oxygen saturation was 94% at room air and complete blood count was suggestive of polycythaemia (Hb 20 g/dl, Hct 60%, Tc-16500, RBC count--6.29 million/cumm, Platelet count--1,88000). Imaging studies were done, ultrasonography showed absent uterus, absent left kidney, right ectopic kidney.X-ray foot showed 6th metatarsal with phalanx. 2D ECHO was suggestive of Patent Ductus Arteriosus with reversal of shunt with severe aortic stenosis and bicuspid aortic valve. All these anomalies form part of a syndrome complex called MURCS ASSOCIATION (Mullerian agenesis/aplasia, renal anomalies, and Cervicothoracic Somite deformities).
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PMID:MURCS Association: a rare association with patent ductus arteriosus and bicuspid aortic valve. 2497