Weillmarchesanis syndrome, familial involvement, ectopia lentis, spherophakia. I contenuti hanno solo fine illustrativo e non sostituiscono il parere medico. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Jump to navigation jump to search this is an alphabeticallysorted. Oorzaken en erfelijkheid wms mutaties wijzigingen in het adamts10 en fbn1gen veroorzaken het weill marchesani syndroom. Weill marchesani syndrome was fullblown in two cases in the third generation, in which asymmetrical axial length and glaucomatous damage were. People with this syndrome are usually short in height and often have short fingers and limited joint movement, especially of the hands. Mean of sindrome di weill marchesani is 0 points 0 %. The ocular problems, typically recognized in childhood, include microspherophakia small spherical lens, myopia secondary to the abnormal shape of the lens, ectopia lentis abnormal position of the lens, and. The ocular problems, typically recognized in childhood, include microspherophakia small spherical lens, myopia secondary to the abnormal shape of the lens, ectopia lentis abnormal position of the lens. Weillmarchesani syndrome genetic and rare diseases. The parents of an individual with an autosomal recessive. Weillmarchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern when weillmarchesani syndrome is caused by mutations in the adamts10 gene, it has an autosomal recessive pattern of inheritance. Weillmarchesani syndrome is a rare genetic disorder characterized by short stature.
E caracterizada por subluxacao do cristalino mais comumente inferior, baixa estatura e braquidactilia dedos largos e curtos 1. Este transtorno e raro, afetando aproximadamente 1 em cada 100. To report the diagnostic features and management strategy of a rare case of weill marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. Consent to publish the case including patients clinical photographs was obtained. Weill marchesani syndrome uncountable a rare genetic disorder characterized by short stature, brachycephaly, and other facial abnormalities. Le informazioni riportate non sono consigli medici e potrebbero non essere accurate.
Weillmarchesani syndrome is a rare systemic connective tissue disease char acterized by short stature, brachydac tyly, ectopia lentis and spherophakia. Weill marchesani syndrome is a congenital disease that combines microspherophakia and skeletal abnormalities. There are few familial cases of weill marchesani s syndrome reported in the literature. Weill marchesani s syndrome, familial involvement, ectopia lentis, spherophakia. Weillmarchesani syndrome how is weillmarchesani syndrome. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. When weill marchesani syndrome is caused by mutations in the adamts10 gene, it has an autosomal recessive pattern of inheritance. Houston, texas ectopia lentis is a common manifestation of three heritable systemic disorders. Since the description of this disease by weill and marchesani in 1932 and 1939 respectively, patterns of autosomal dominant and recessive inheritance have been outlined. Interactive cardiovascular and thoracic surgery, sep 2004. Weillmarchesani syndrome with advanced glaucoma and corneal. The authors report a 19yearold male, born of a consanguineous marriage, with a progressive decrease in visual acuity. Weill marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. A patient presented with advanced glaucoma with an intraocular pressure of 49 mmhg in the left eye, and subsequently received trabeculectomy to control the intraocular pressure.
Weill marchesani syndrome includes short stature, brachydactyly, microspherophakia, glaucoma, and ectopia lentis. Statistiche di sindrome di weill marchesani 0 persone con sindrome di weill marchesani hanno effettuato il test sf36. Both autosomal dominant and recessive inheritances have been described. It is an autosomal recessive trait, occurring in 1 in 00 individuals. Weill marchesani syndrome an overview sciencedirect topics. Le informazioni di tipo sanitario contenute in questo sito web sono rivolte a personale medico specializzato e non possono in alcun modo intendersi come riferite al singolo e sostitutive dellatto medico. Weillmarchesani syndrome genetics home reference nih. Weill marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern. To determine the biometry of ocular structures and corneal topographic characteristics in patients with weill marchesani syndrome. Weil marchesani syndrome is a rare genetic disorder of the connective tissue with ocular effect. Jun 06, 2006 this was a case of weill marchesani s syndrome described in a family, in which four of the eight children were affected by spherophakia, brachymorphy and brachydactyly. Biometric and corneal topographic characteristics in patients. Weill marchesani syndrome how is weill marchesani syndrome abbreviated. Two patients with weillmarchesani syndrome and mitral.
Files are available under licenses specified on their description page. Glaucoma services, advanced eye centre, postgraduate institute of medical education and research, chandigarh, india 160012. Ocular complications in the weillmarchesani syndrome. Two patients with weill marchesani syndrome and mitral stenosis. Since the description of this disease by weill and marchesani in 1932 and 1939 respectively. The general examination showed a squat look, dwarfism, muscle hypertrophy, short hands and feet, and joint stiffness. Named after ophthalmologists georges weill 18661952 and oswald marchesani 19001952, who first described it. Weillmarchesani syndrome wms is a rare systemic connective tissue disorder with the systemic features of short stature, short and stubby hands and feet and stiff joints, especially in the hands. Department of ophthalmology, shiraz university of medical. Weillmarchesani syndrome with advanced glaucoma and. A large number of abnormal conditions are known to be inherited in man. Nov 01, 2007 weill marchesani syndrome wms is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. Enable javascript to view the expandcollapse boxes. When weillmarchesani syndrome is caused by mutations in the adamts10 gene, it has an autosomal recessive pattern of inheritance.
This report does not contain any personal information that could lead to the identification of the patient. Weillmarchesani syndrome wms is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. This was a case of weill marchesani s syndrome described in a family, in which four of the eight children were affected by spherophakia, brachymorphy and brachydactyly. Sindrome sferofachia brachimorfia fa riferimento a sindrome di weill marchesani. Weillmarchesani syndrome wms is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens. All structured data from the file and property namespaces is available under the creative commons cc0 license. Weill marchesani syndrome is a rare genetic disorder characterized by short stature. It was named after ophthalmologists georges weill 18661952 and oswald marchesani 19001952 who first described it in 1932 and. Weillmarchesani syndrome with secondary angle closure. Sindrome sferofachia brachimorfia fa riferimento a sindrome di weillmarchesani. Genealogy profile for oswald marchesani genealogy for oswald marchesani 1900 1952 family tree on geni, with over 190 million profiles of ancestors and living relatives. Weillmarchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern.
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