Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. Gastrointestinal symptoms, such as pyloric stenosis, anal atresia, annular pancreas, and rectovaginal fistula, have also been reported sporadically. This is a report describing a patient diagnosed with RTS referred to us because of dysphagia caused by esophageal stenosis. Long-term results of endoscopic dilation are also presented.
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PMID:Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis. 2195 66

We herein report the case of a 22-year-old Caucasian man with known vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies (VACTERL) association who presented with a headache and vertigo following the sudden and temporary loss of consciousness while attending a concert four days before admission to the hospital. On a physical examination, the following findings were found: a low body height, low-set ears, thoracic scoliosis and a mild holosystolic heart murmur. A neurosonological examination revealed a partial subclavian steal phenomenon. CT angiography of the neck vessels and aortic arch confirmed an anomalous right subclavian artery -known as the lusorian artery. Further studies are warranted in patients with VACTERL in order to identify possible links between the prevalence of an aberrant right subclavian artery (lusorian artery) and possible congenital subclavian steal syndrome or dysphagia lusoria. In addition, duplex ultrasound of the carotid and vertebral arteries may be performed as part of screening examinations in patients with congenital syndromes.
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PMID:An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. 2513 Jan 25