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.

Ectopia lentis

Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.

Total: 8

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PMID (PMCID)
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.
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.
	Though RP has been associated with ectopia lentis in earlier reports, this is, to the best of our knowledge, the first case report describing the association of RP and Weill-Marchesani syndrome.
16494613	MALE
	Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis.
	Chu BS. Clin Exp Optom. 2006;89(2):95-9.
	Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis.
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.
14522284	MALE	Adult
	Modified capsular tension ring for patients with congenital loss of zonular support.
	Cionni RJ, Osher RH, Marques DM, Marques FF, Snyder ME, Shapiro S. J Cataract Refract Surg. 2003;29(9):1668-73.
	Ninety eyes of 57 patients with congenital loss of zonular support (Weill-Marchesani syndrome, idiopathic ectopia lentis, and Marfan's syndrome) had phacoemulsification with PC IOL and MCTR implantation.
9075633	MALE	Adult
	Weill-Marchesani syndrome: report of an unusual case.
	Giordano N, Senesi M, Battisti E, Mattii G, Gennari C. Calcif Tissue Int. 1997;60(4):358-60.
	We report a single case of Weill-Marchesani syndrome, typically characterized by progressive joint stiffness, brachiymorphy, brachydactyly, and ectopia lentis.
2285689	MIXED_SAMPLE	Adult
	Histology of the lens in the Weill-Marchesani syndrome.
	Fujiwara H, Takigawa Y, Ueno S, Okuda K. Br J Ophthalmol. 1990;74(10):631-4.
	The Weill-Marchesani syndrome is a rare systemic connective tissue disease characterised by small stature, brachydactyly, ectopia lentis, and spherophakia.