Weill-Marchesani syndrome

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

Microspherophakia

Lens of the eye is smaller than normal and spherically shaped.


Total: 13

                       


(per page)
PMID (PMCID)
26695613
 MIXED_SAMPLE Infant
A new combined surgical approach in a patient with microspherophakia and developmental iridocorneal angle anomaly.
Satana B, Altan C, Basarir B, Alkin Z, Yilmaz OF.
Nepal J Ophthalmol. 2015;7(1):85-9.
We describe a patient with microspherophakia due to Weill-Marchesani syndrome accompanied by developmental angle anomaly who was successfully treated with a surgery of combined PPL and goniotomy.
25571963
(4298062)
 FEMALE Adult
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.
Guo H, Wu X, Cai K, Qiao Z.
BMC Ophthalmol. 2015;15:3.
Weill-Marchesani syndrome could be diagnosed by microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities such as brachymorphia and brachydactyly.
25142510
 MIXED_SAMPLE Infant, Newborn
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
Wang Y, Zhang H, Ye J, Han L, Gu X.
J Hum Genet. 2014;59(10):563-7.
Geleophysic dysplasia (GD), acromicric dysplasia (AD) and Weill-Marchesani syndrome (WMS) are rare disorders with overlapping characteristics, such as short stature, short hands and feet, joint limitations, skin thickening, mild facial anomalies, normal intelligence and abnormal skeletal symptoms, with GD distinct by progressive cardiac valvular thickening and WMS distinct by microspherophakia and ectopia lentis.
24214363
 FEMALE Adult
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V.
Am J Med Genet A. 2013;161A(12):3130-2.
Weill-Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac valvular thickening, tracheal stenosis, and/or bronchopulmonary insufficiency, often leading to early death.
19696795
 MIXED_SAMPLE Adult
Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.
Ben Yahia S, Ouechtati F, Jelliti B, Nouira S, Chakroun S, Abdelhak S, Khairallah M.
J Hum Genet. 2009;54(9):550-3.
Microspherophakia seems to be the most specific feature of the Weill-Marchesani Syndrome, which could be due to mutations within the ADAMTS10 gene.
17322607
 FEMALE
Weill-Marchesani syndrome associated with retinitis pigmentosa.
Jethani J, Mishra A, Shetty S, Vijayalakshmi P.
Indian J Ophthalmol. 2007;55(2):142-3.
The Weill-Marchesani syndrome is a multi-system disorder with microspherophakia as one of the common manifestations.
16633042
 MALE Adult
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome.
Burakgazi AZ, Ozbek Z, Rapuano CJ, Rhee DJ.
Cornea. 2006;25(3):361-3.
Based on our findings of short stature, shortened and thickened fingers, relatively normal axial length, microspherophakia, high myopia, and glaucoma, we diagnosed the patient with Weill-Marchesani syndrome.
12770659
 MALE Adult
Airway management of a patient with Weill-Marchesani syndrome.
Karabiyik L.
J Clin Anesth. 2003;15(3):214-6.
Weill-Marchesani syndrome is a genetically determined rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, aortic stenosis, and ophthalmologic abnormalities, such as ectopia lentis, microspherophakia, and secondary glaucoma.
12648208
 MALE Adult
Anesthetic management of a patient with Weill-Marchesani syndrome.
Dal D, Sahin A, Aypar U.
Acta Anaesthesiol Scand. 2003;47(3):369-70.
Weill-Marchesani syndrome is characterized by short stature, brachydactylyl, myopia, microspherophakia, lens dislocation, glaucoma, joint stiffness, restricted articular movements and facial features.
11712631
 FEMALE Adult
Uncontrolled glaucoma secondary to an arteriovenous malformation in a Weill-Marchesani patient.
Derose CJ, Jeffrey A.
Optometry. 2001;72(10):641-8.
The patient demonstrates the known clinical signs of Weill-Marchesani syndrome: short stature, microspherophakia, lens subluxation, and secondary glaucoma.
11912838
 MALE Adult
[Weill Marchesani syndrome. Report of a case].
el Kettani A, Hamdani M, Rais L, el Belhadji M, Rachid R, Laouissi N, Zaghloul K, Amraoui A.
J Fr Ophtalmol. 2001;24(9):944-8.
Weill Marchesani syndrome is a congenital disease that combines microspherophakia and skeletal abnormalities.
7643490
 MALE
Histopathological study of microspherophakia in the Weill-Marchesani syndrome.
Nagata M, Takagi S, Yamasaki A, Tsunematsu S, Kumagami T, Itamochi C, Tamai A.
Jpn J Ophthalmol. 1995;39(1):89-95.
Histopathological study of microspherophakia in the Weill-Marchesani syndrome.
1519650
 MIXED_SAMPLE Adult
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.
Verloes A, Hermia JP, Galand A, Koulischer L, Dodinval P.
Am J Med Genet. 1992;44(1):48-51.
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.