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Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Marzin P, Rondeau S, Alessandri JL, Dieterich K, le Goff C, Mahaut C, Mercier S, Michot C, Moldovan O, Miolo G, Rossi M, Van-Gils J, Francannet C, Robert MP, Jaïs JP, Huber C, Cormier-Daire V. Marzin P, et al. J Med Genet. 2024 Jan 19;61(2):109-116. doi: 10.1136/jmg-2023-109288. J Med Genet. 2024. PMID: 37734846 Review.
BACKGROUND: Weill-Marchesani syndrome (WMS) belongs to the group of acromelic dysplasias, defined by short stature, brachydactyly and joint limitations. ...
BACKGROUND: Weill-Marchesani syndrome (WMS) belongs to the group of acromelic dysplasias, defined by short stature, bra …
Weill-Marchesani syndrome.
Wentzloff JN, Kaldawy RM, Chen TC. Wentzloff JN, et al. J Pediatr Ophthalmol Strabismus. 2006 May-Jun;43(3):192. doi: 10.3928/01913913-20060301-17. J Pediatr Ophthalmol Strabismus. 2006. PMID: 16761646 No abstract available.
Weill-Marchesani syndrome.
Kulkarni ML, Venkataramana V, Sureshkumar C, Satishchandra. Kulkarni ML, et al. Indian Pediatr. 1995 Aug;32(8):923-6. Indian Pediatr. 1995. PMID: 8635842 No abstract available.
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.
Guo H, Wu X, Cai K, Qiao Z. Guo H, et al. BMC Ophthalmol. 2015 Jan 9;15:3. doi: 10.1186/1471-2415-15-3. BMC Ophthalmol. 2015. PMID: 25571963 Free PMC article. Review.
BACKGROUND: To report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. ...Removal of the microspherophakia is recommended to control intraocular pressure an …
BACKGROUND: To report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with …
Weill-Marchesani syndrome in three generations.
Evereklioglu C, Hepsen IF, Er H. Evereklioglu C, et al. Eye (Lond). 1999 Dec;13 ( Pt 6):773-7. doi: 10.1038/eye.1999.226. Eye (Lond). 1999. PMID: 10707143 Review.
BACKGROUND: Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. ...Presenile vitreous liquefaction in subtle young cases should alert the physician to th …
BACKGROUND: Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachyd …
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome.
Razeghinejad MR, Hosseini H, Namazi N. Razeghinejad MR, et al. J Cataract Refract Surg. 2009 Jun;35(6):1026-32. doi: 10.1016/j.jcrs.2009.01.029. J Cataract Refract Surg. 2009. PMID: 19465288
PURPOSE: To determine the biometry of ocular structures and corneal topographic characteristics in patients with Weill-Marchesani syndrome. SETTING: Department of Ophthalmology, Shiraz University of Medical Sciences, Shiraz, Iran. METHODS: Patients with We …
PURPOSE: To determine the biometry of ocular structures and corneal topographic characteristics in patients with Weill-Marchesani …
Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.
Al Motawa MNA, Al Shehri MSS, Al Buali MJ, Al Agnam AAM. Al Motawa MNA, et al. Am J Case Rep. 2021 May 31;22:e930824. doi: 10.12659/AJCR.930824. Am J Case Rep. 2021. PMID: 34057920 Free PMC article. Review.
BACKGROUND Short stature is the second most common reason for referral to a pediatric endocrinology clinic. Numerous genetic causes have been identified. Weill-Marchesani syndrome (WMS) is one of the rare genetic disorders that cause short stature. ...
BACKGROUND Short stature is the second most common reason for referral to a pediatric endocrinology clinic. Numerous genetic causes have bee …
Angle closure in younger patients.
Ritch R, Chang BM, Liebmann JM. Ritch R, et al. Ophthalmology. 2003 Oct;110(10):1880-9. doi: 10.1016/S0161-6420(03)00563-3. Ophthalmology. 2003. PMID: 14522758 Review.
Diagnoses included plateau iris syndrome (35 patients); iridociliary cysts (8 patients); retinopathy of prematurity (7 patients); uveitis (5 patients); isolated nanophthalmos (3 patients); relative pupillary block (2 patients); Weill-Marchesani syndrome (3 pa …
Diagnoses included plateau iris syndrome (35 patients); iridociliary cysts (8 patients); retinopathy of prematurity (7 patients); uveitis (5 …
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V. Kochhar A, et al. Am J Med Genet A. 2013 Dec;161A(12):3130-2. doi: 10.1002/ajmg.a.36147. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214363
The acromelic dysplasias comprise short stature, hands and feet, and stiff joints. Three disorders are ascribed to this group, namely Weill-Marchesani syndrome, geleophysic dysplasia, and acromicric dysplasia, although similar in phenotype, can be distinguish …
The acromelic dysplasias comprise short stature, hands and feet, and stiff joints. Three disorders are ascribed to this group, namely Wei …
The Weill-Marchesani syndrome: report of two cases and a review.
Haik GM Sr, Terrell WL 3rd, Haik GM Jr. Haik GM Sr, et al. J La State Med Soc. 1990 Dec;142(12):25-8, 30-2. J La State Med Soc. 1990. PMID: 2277226 Review.
Two cases of the Weill-Marchesani syndrome are reported. The diagnosis very likely is being missed in some cases in which the skeletal abnormalities are minor and the patients are not referred for systemic examination. ...
Two cases of the Weill-Marchesani syndrome are reported. The diagnosis very likely is being missed in some cases in whi …
47 results