Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 43-years-old male patient presents pathological cataract at both eyes. The thorough somatic examination shows little size, with adiposity, short members with brachydactyly. It is discussed the presence of the pathological cataract as part of a mesodermal dysgenetic syndrome with brachymorphy and brachydactyly, different from the Weill-Marchesani syndrome.
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PMID:[Brachymorphy and cataract]. 142 Jan 34

The observation on a female patient with anterior underluxation of the lens at the right eye, secondary absolute glaucoma at the right eye, posterior luxation of the lens at the left eye, pathological cataract at both eyes. The general somatic exam shows low tallness, short members, brachydactyly and reduced functional mobility. The clinical manifestations point out a Weill-Marchesani syndrome . The underluxation of the lens determined secondary glaucoma in the absolute stage at the right eye, while the evolution of the lens luxation in vitreous at the left eye kept the visual function. The secondary glaucoma in the Weill-Marchesani syndrome is not a compulsory complication of it.
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PMID:[Secondary glaucoma in the Weill-Marchesani syndrome]. 828 19

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of lens, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described for WMS. A locus for AR WMS has recently been mapped to chromosome 19p13.3-p13.2 while mutation within the fibrillin-1 gene (15q21.1) was found in one AD WMS family. In order to answer the question of whether or not genetic heterogeneity could be related to a clinical heterogeneity, we reviewed 128 WMS patients from the literature (including 57 AR, 50 AD, and 21 sporadic cases), with a particular attention to clinical features. Statistical analyses using Fischer exact test were used to compare the proportions of 12 clinical parameters between AR and AD patients. There was no significant difference between both groups for myopia, glaucoma, cataract, short stature, brachydactyly, thick skin, muscular build, and mental retardation. Significant results were found for microspherophakia (94% in AR, 74% in AD, Fischer 0.007), ectopia lentis (64% in AR, 84% in AD, Fischer 0.016), joint limitations (49% in AR, 77% in AD, Fischer 0.010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS.
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PMID:Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 1459 50

Weill-Marchesani syndrome (WMS) is a genetic connective tissue disorder associated with fibrous tissue hyperplasia. Weill-Marchesani syndrome is characterized by short stature, broad head and other facial abnormalities such as hypoplastic maxilla and distinctive ocular abnormalities. Joint stiffness is one of the features of this syndrome. We report 5 cases with classical features of WMS who were subjected to different ophthalmic procedures. To the best of our knowledge, this is the first series on the anesthetic management of this rare syndrome. We observe that patients with WMS can present for cataract, glaucoma as well as retinal surgery. Special consideration should be given to difficult intubation, cardiac abnormalities and patient positioning.
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PMID:Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. 1674 67