Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation. This report presents a sporadic case of the Rieger syndrome, the findings in which include the characteristic ocular anomalies, shortness of stature, mental retardation, absent dental defects and a peculiar, heretofore unobserved, myopathy.
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PMID:Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case. 500 37

A known case of Ellis-Van Creveld Syndrome was scheduled for emergency repair of obstructed paraumblical hernia. We describe the anaesthetic management of the case with special reference to the classic physical and physiological manifestations of this syndrome present in our patient.
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PMID:Anaesthetic management of patient with Ellis Van Creveld syndrome. 1882 49