Weill -Marchesani Syndrome! •Known as Spherophakia-Brachymorphia syndrome. •Rare connective tissue disorder presenting with abnormalities of the lens,... ... <看更多>
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Weill -Marchesani Syndrome! •Known as Spherophakia-Brachymorphia syndrome. •Rare connective tissue disorder presenting with abnormalities of the lens,... ... <看更多>
#1. Weill-Marchesani syndrome - Genetics - MedlinePlus
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure ...
#2. Weill Marchesani Syndrome - Symptoms, Causes, Treatment
Weill Marchesani syndrome is a rare genetic disorder of connective tissue characterized by abnormalities of the lens of the eye, short stature, an unusually ...
#3. Weill-Marchesani Syndrome - GeneReviews® - NCBI Bookshelf
Weill-Marchesani syndrome (WMS) is a connective tissue disorder that usually presents in childhood with short stature and/or ocular problems.
#4. Weill–Marchesani syndrome - Wikipedia
Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial ...
#5. Weill Marchesani syndrome - Orphanet
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities ...
#6. Weill Marchesani Syndrome - an overview - ScienceDirect.com
Weill-Marchesani syndrome (WMS) is a rare systemic connective tissue disorder. Affected individuals exhibit microspherophakia, ectopia lentis, lenticular myopia ...
#7. Weill-Marchesani syndrome in three generations | Eye - Nature
Background Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, ...
#8. Weill-Marchesani syndrome with advanced glaucoma and ...
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, ...
#9. 277600 - WEILL-MARCHESANI SYNDROME 1; WMS1 - OMIM
Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, ...
#10. A case of Weill–Marchesani syndrome with new LTBP2 ...
Background: Weill–Marchesani syndrome (WMS) is an autosomal inherited connective tissue disease. Clinical manifestations include ...
#11. Weill‐Marchesani syndrome and secondary glaucoma ...
Weill -Marchesani syndrome (WMS) is a rare systemic connective tissue disorder with the systemic features of short stature, short and stubby ...
#12. Weill-Marchesani Syndrome | SpringerLink
Etiology. Weill-Marchesani syndrome is an inherited disorder of the connective tissue. Two modes of inheritance are predominant, the autosomal dominant (45 %) ...
#13. Weill-Marchesani-like syndrome caused by an FBN1 mutation ...
Weill -Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by brachydactyly, short stature, joint stiffness, ...
#14. Weill-Marchesani Syndrome | Encyclopedia MDPI
Weill -Marchesani syndrome appears to be rare; it has an estimated prevalence of 1 in 100,000 people. 3. Causes. Mutations in the ADAMTS10 and FBN1 genes can ...
#15. In frame fibrillin-1 gene deletion in autosomal dominant Weill ...
Weill -Marchesani syndrome (WMS) is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye ...
#16. Weill-Marchesani syndrome - KEGG DISEASE
Weill -Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, ectopia lentis and spherophakia. Decreased ...
#17. Weill-Marchesani syndrome - VisualDx
Weill -Marchesani syndrome (WMS, congenital mesodermal dysmorphic dystrophy, spherophakia-brachymorphia syndrome) is a rare systemic connective ...
#18. Weill-Marchesani syndrome 1 | Human diseases - UniProt
Disease - Weill-Marchesani syndrome 1 · Definition. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye ...
#19. Weill-Marchesani Syndrome - Indian Pediatrics
Weill -Marchesani syndrome is a rare systemic connective tissue disease char- acterized by short stature, brachydac- tyly, ectopia lentis and spherophakia.
#20. Weill-Marchesani Syndrome, a Rare Presentation of Severe ...
Weill -Marchesani syndrome (WMS) is one of the rare genetic disorders that cause short stature. It is caused by homozygous mutations in the FBN1 ...
#21. Weill-Marchesani Syndrome 2 (WMS2) - MalaCards
Summaries for Weill-Marchesani Syndrome 2 ... GARD: Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint ...
#22. 1240 Obstructive Sleep Apnea Management in Weill ...
AbstractIntroduction. Weill-Marchesani Syndrome (WMS) is a rare systemic genetic connective tissue disorder which usually presents with ...
#23. Weill-Marchesani syndrome - PubCaseFinder
31114122 MALE Adult 31114122 MALE Adult 30380740 · (6266624) OTHER 26695613 MIXED_SAMPLE Infant
#24. Weil–Marchesani syndrome: A case report and literature ...
Weill –Marchesani syndrome is a rare connective tissue disorder, with a poorly understood etiology that has been primarily related to hereditary genetic ...
#25. Weill-Marchesani Syndrome
"Weill-Marchesani Syndrome." Syndromes: Rapid Recognition and Perioperative Implications Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ.
#26. Abnormal lens thickening in a child with Weill–Marchesani ...
BackgroundWeill–Marchesani syndrome 4 (WMS4) is caused by ADAMTS17 gene variant and clinical abnormalities including lenticular myopia, ectopia lentis, ...
#27. Weill-Marchesani Syndrome 1 - Hereditary Ocular Diseases
The Weill-Marchesani phenotype is a rare connective tissue disorder manifested by short stature, brachydactyly, spherophakia and stiff joints.
#28. WEILL-MARCHESANI SYNDROME 1; WMS1 | MENDELIAN.CO
Description. Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, ...
#29. Anesthetic Characteristics And Airway Evaluation With Weill
Weill -Marchesani syndrome (WMS) is a genetic connective tissue disorder associated with fibrous tissue hyperplasia. Weill-Marchesani.
#30. A Case of Weill-Marchesani Syndrome with Inversion of ...
In Weill-Marchesani syndrome with a chromosomal anomaly, a dislocated spherophakic lens may cause severe corneal endothelial dysfunction due to ...
#31. Ectopia Lentis: Weill Marchesani Syndrome
Ectopia Lentis: Weill Marchesani Syndrome. HL Trivedi*, Ramesh Venkatesh**. Abstract. A 20 yr old boy came to our OPD with decreased vision since 3 yrs.
#32. Bilateral golden ring in the eye: Weill–Marchesani syndrome
The patient was diagnosed to have Weill–Marchesani syndrome with secondary angle-closure glaucoma. She underwent Nd:YAG laser peripheral ...
#33. Weill–Marchesani syndrome: A rare cause of ectopia lentis ...
Background: Weill–Marchesani syndrome (WMS) is a rare heritable connective disorder characterized by short stature, brachydactyly, stiff joints and distinctive ...
#34. (PDF) Weill-Marchesani syndrome - ResearchGate
Weill -Marchesani syndrome (WMS) is a rare disorder displaying short stature, brachydactyly and joint stiffness, and ocular features including microspherophakia ...
#35. A Rare Case Report: Weill Marchesani Syndrome
Weill Marchesani syndrome (WMS) is a rare genetic disorder characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities ...
#36. Visual Outcome in Weill Marchesani Syndrome – A Rare Case ...
Abstract : Weill Marchesani syndrome is a rare systemic connective tissue disease characterized by short stature, brachydactyly, ectopia lentis and ...
#37. Weill-Marchesani Syndrome, a Rare ... - Semantic Scholar
Weill -Marchesani syndrome (WMS) is one of the rare genetic disorders that cause short stature. It is caused by homozygous mutations in the FBN1 gene, ...
#38. Weill-Marchesani Syndrome | Harvard Catalyst Profiles
"Weill-Marchesani Syndrome" is a descriptor in the National Library of Medicine's ... Rare congenital disorder of connective tissue characterized by ...
#39. Weill-Marchesani syndrome 3 | HNL Genomics
Weill -Marchesani syndrome (WMS) is characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including ectopia lentis, ...
#40. Weill-Marchesani Syndrome Overview - Expertscape.com
Cardiovascular anomalies are occasionally seen. The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations. The ...
#41. A Pedigree Report of a Rare Case of Weill–Marchesani ...
Weill –Marchesani syndrome (WMS) is an autosomal inherited connective tissue disease. Clinical manifestations include microspherophakia (MSP) ...
#42. Weill-Marchesani syndrome - wikidoc
Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder.
#43. Weill-Marchesani Syndrome Market – Global Industry Trends ...
Global Weill-Marchesani Syndrome Market, By Treatment (Medication, Laser Therapy, Surgery, Genetic Counseling, Others), Diagnosis (Tonometry, Visual Field ...
#44. Ocular complications in the Weill-Marchesani syndrome
In a series of ten patients with the WeillMarchesani syndrome, ectopia lentis occurred in 14 of 19 eyes. Glaucoma was found in 13 of the 17 eyes tested; ...
#45. Weill-Marchesani Syndrome in Nigeria: Report of a case that ...
This study reports a single case of Weill-Marchesani syndrome in an adult Nigerian. This syndrome is typically characterized by progressive joint stiffness, ...
#46. A Case of Refractory Childhood Glaucoma Secondary to Weill ...
A 2-year-old girl was diagnosed as Weill-Marchesani syndrome with typical systemic features of short stature, short and stubby hands and ...
#47. Weill-Marchesani Syndrome, Autosomal Recessive - CAGS
Weill -Marchesani syndrome (WMS) is a rare genetic disorder that is characterized by short stature, unusually short fingers (brachydactyly), joint stiffness, ...
#48. Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and ...
Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions.
#49. Surgical Treatment of Advanced Chronic Angle Closure ...
Advanced chronic angle closure glaucoma in Weill–Marchesani syndrome may be treated with a combination of lensectomy, anterior vitrectomy, and ...
#50. anteriorly dislocated lens in weill marchesani syndrome
Abstract: Ectopia lentis has many systemic associations, Weill Marchesani syndrome being one of them. It is a rare connective tissue disorder, characterised by ...
#51. Weill-Marchesani Syndrome:
Weill described in 1932 O) two patients with ectopia lentis and nanism out of a group of eight patients with skeletal malformations.
#52. A Novel Stop Codon Variant of ADAMTS10 Gene in Weill ...
Weill -Marchesani syndrome is a rare genetic disorder presenting microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities.
#53. Weill-Marchesani Syndrome | Profiles RNS
"Weill-Marchesani Syndrome" is a descriptor in the National Library of Medicine's ... Rare congenital disorder of connective tissue characterized by ...
#54. weill-marchesani syndrome Gene Set
Symbol Name Standardized Value ADAMTSL2 ADAMTS‑like 2 2.33704 FBN1 fibrillin 1 2.26428 ADAMTSL4 ADAMTS‑like 4 2.06442
#55. Central Corneal Thickness in Patients With Weill-Marchesani ...
Weill -Marchesani syndrome (WMS) is a rare hereditary connective tissue disorder first described by Weill in 1932, and further delineated by ...
#56. Weill-Marchesani syndrome - Medicover Genetics
Weill -Marchesani syndrome. Home / Diseases of the Connective Tissue / Weill-Marchesani syndrome. SCIENTIFIC BACKGROUND.
#57. Corneal Microstructural Analysis in Weill-Marchesani ...
A thick cornea is a constant ocular finding in the mesodermal dysmorphodystrophy (Weill-Marchesani Syndrome). In this study we investigated with confocal ...
#58. ZFIN Human Disease: Weill-Marchesani syndrome
Term Name: Weill-Marchesani syndrome, Search Ontology: Synonyms: congenital mesodermal dystrophy; GEMSS syndrome; Marchesani-Weill Syndrome ...
#59. Weill Marchesani Syndrome - YouTube
1K views 1 year ago. 1,009 views • Apr 17, 2022 … Show more. Show more. Show less. Weill Marchesani Syndrome. 1,009 views1K views.
#60. DeCS Server - List Exact Term
Search on: WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE. Descriptors Found: 1. Displaying: 1 .. 1. 1 / 1, DeCS. Descriptor English: Weill-Marchesani ...
#61. Weill-Marchesani syndrome - Wiktionary
A rare genetic disorder characterized by short stature, brachycephaly, and other facial abnormalities; hand defects, including brachydactyly; and distinctive ...
#62. Combined Surgery in the Eye of a Patient With Weill ... - Eyetube
Reza Razeghinejad, MD, shares an interesting case of a patient with Weill-Marchesani syndrome who presented with glaucoma, an iris-claw ...
#63. Weill Marchesani Syndrome - DoveMed
Weill Marchesani Syndrome (WMS) is a rare congenital disorder that is primarily characterized by connective tissue abnormalities in the lens ...
#64. Isolated Ectopia Lentis in Suspect of Weill-Marchesani ...
Introduction: The prevalence of Weill-Marchesani syndrome (WMS) is estimated to be 1:100.000 proportion of the population.
#65. ADAMTS10-mediated tissue disruption in Weill-Marchesani ...
Mutations in fibrillin-1 or ADAMTS10 cause Weill-Marchesani syndrome (WMS) characterised by short stature, eye defects, hypermuscularity and ...
#66. Síndrome de Weill-Marchesani - SciELO Cuba - Infomed
Weil Marchesani syndrome is a rare genetic disorder of the connective tissue with ocular effect. Since the description of this disease by Weill and Marchesani ...
#67. Fibrin glue-assisted intraocular lens fixation in weill ... - ProQuest
PURPOSE: To report visual and intraocular pressure (IOP) outcomes of 4 eyes in 2 patients with Weill Marchesani Syndrome having ocular fearures of spherophakia ...
#68. Weill-Marchesani syndrome - Whonamedit?
Weill -Marchesani syndrome. Related people. Georges Weill · Oswald Marchesani. small shallow orbits, mild maxillary hypoplasia, narrow palate, ...
#69. Ophthalmobytes - Weill-Marchesani Syndrome! •Known as ...
Weill -Marchesani Syndrome! •Known as Spherophakia-Brachymorphia syndrome. •Rare connective tissue disorder presenting with abnormalities of the lens,...
#70. About: Weill-Marchesani syndrome - Rare Disease InfoHub
Weill -Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to ...
#71. FP1515 : An Unusual Case of Weill- Marchesani Syndrome
We present the case of a 10 year old child with Weill-Marchesani syndrome. The clinical diagnosis was made on the basis of the ...
#72. Retinal Vascular Tortuosity in a Patient with Weill-Marchesani ...
Weill -Marchesani syndrome (WMS) is a rare connective tissue disorder with characteristic phenotypic skeletal and ocular manifestations. A 28-year-old myopic ...
#73. Weill-Marchesani syndrome (DOID:0050475)
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: congenital mesodermal dystrophy; GEMSS syndrome; Marchesani-Weill ...
#74. WEILL-MARCHESANI SYNDROME 1 - MyBioSource
WEILL -MARCHESANI SYNDROME 1 Products by Diseases. ... Showing 1 to 50 of 10000 found results for "WEILL-MARCHESANI SYNDROME 1". Display.
#75. Weill-Marchesani syndrome in three generations
Özet: Background Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia ...
#76. A Case of Weill-Marchesani Syndrome with ... - ScienceOpen
Purpose To present a case of Weill-Marchesani syndrome with corneal endothelial dysfunction due to anterior dislocation of a spherophakic lens and ...
#77. Weill-Marchesani syndrome associated with retinitis ...
Retinitis pigmentosa (RP) is associated with a wide variety of ocular and systemic disorders. The Weill-Marchesani syndrome is a multi-system disorder with ...
#78. Autosomal dominant Weill-Marchesani syndrome and ...
Figure 1 - Microspherophakia and avascular bleb in trabeculectomy with mitomycin-C. Autosomal dominant Weill-Marchesani syndrome and glaucoma management.
#79. Weill- Marchesani Syndrome: a rare case report
Slit lamp examination revealed a sub-luxated micro-spherophakic lens. The patient was diagnosed with Weill-Marchesani syndrome. Conclusion: ...
#80. Timely Diagnosis of Weill-Marchesani Syndrome Can ...
Keywords: Weill–Marchesani syndrome, microspherophakia, lens dislocation, bradydactyly, joint stiffness, clear lens extraction. INTRODUCTION. WMS is a ...
#81. Variants studied for Weill-Marchesani syndrome - ClinVar Miner
Variants studied for Weill-Marchesani syndrome. Coded as: MONDO:0018096 · OMIM:PS277600 · UMLS:C0265313. Minimum submission review status:.
#82. Weill-Marchesanis syndrom | Svensk MeSH
Weill -Marchesani Syndrome. Weill-Marchesanis syndrom. Engelsk definition. Rare congenital disorder of connective tissue characterized by brachydactyly, ...
#83. Weill-Marchesani综合征_百度百科
外文名: Weill-Marchesani Syndrome ; 别 名: 短指-球状晶体综合征、先天性中胚层发育异常营养障碍 ; 就诊科室: 眼科、骨科 ; 常见病因: 遗传 ; 常见症状: 小球形晶体，晶体移 ...
#84. Weill-Marchesani | Ento Key
A rare connective tissue disorder associated with short stature, brachydactyly (short digits), joint stiffness, and eye anomalies. – Intraocular ...
#85. Weill-Marchesani syndrome | SGD
Disease Ontology Term: Weill-Marchesani syndrome. DO ID: DOID:0050475; Description: An autosomal genetic disease characterized by short stature, bachycephaly ...
#86. Medline ® Abstract for Reference 10 of 'Ectopia lentis ...
Weill -Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities ...
#87. Weill-Marchesani Syndrome: Report of an Unusual Case
We report a single case of Weill-Marchesani syndrome, typically characterized by progressive joint stiffness, brachiymorphy, brachydactyly, ...
#88. Weill-Marchesani syndrome
Disease name: Weill-Marchesani syndrome; Disease ID: DOID:0050475; Description: "A syndrome characterized by short stature, bachycephaly and other facial ...
#89. Scheimpflug Imaging in Unilateral Acute Pupillary Block ...
We report an interesting case of Weill-Marchesani syndrome presenting as unilateral acute pupillary block glaucoma after dislocation of crystalline lens ...
#90. Weill–Marchesani syndrome - Wikiwand
Weill –Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head and other facial abnormalities; ...
#91. Weill-Marchesani syndrome | Taber's Medical Dictionary
Weill -Marchesani syndrome answers are found in the Taber's Medical Dictionary powered by Unbound Medicine. Available for iPhone, iPad, Android, and Web.
#92. SÍNDROME DE WEILL-MARCHESANI: AFECTACIÓN FAMILIAR
Key words: Weill-Marchesani's syndrome, familial involvement, ectopia lentis, spherophakia. INTRODUCCIÓN. El síndrome de Weill-Marchesani es una alteración poco ...
#93. Le syndrome de Weill Marchesani - EM consulte
Le syndrome de Weill Marchesani est une affection congénitale qui associe une microsphérophakie et des anomalies squelettiques. Les auteurs rapportent le ...
#94. Weill-Marchesani syndrome | Rare Diseases - RareGuru
Weill -Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this syndrome are usually short in ...
#95. NORD Guide to Rare Disorders - 第 267 頁 - Google 圖書結果
Weill - Marchesani Syndrome Weismann - Netter - Stuhl Syndrome. however , when compared with family members of normal stature .
#96. Syndromes of the Head and Neck - 第 1212 頁 - Google 圖書結果
Fujiwara H et al: Histology of the lens in the Weill-Marchesani syndrome. Br J Ophthalmol 74:631–634, 1990. 6. Giordano N et al: Weill-Marchesani syndrome: ...
#97. Pediatric Ophthalmology and Strabismus - 第 476 頁 - Google 圖書結果
The prevalence of this disorder is 1 in 200,000 births . ... Weill - Marchesani syndrome is a rare disease with an unclear inheritance pattern .
#98. Clinical Ophthalmic Genetics and Genomics
Aman Chandra and Elias I. Traboulsi Weill–Marchesani syndrome is a group of connective tissue disorders characterised by microspherophakia (small, ...
weill-marchesani syndrome 在 Weill Marchesani Syndrome - YouTube 的推薦與評價
1K views 1 year ago. 1,009 views • Apr 17, 2022 … Show more. Show more. Show less. Weill Marchesani Syndrome. 1,009 views1K views. ... <看更多>