The Syndrome of Marchesani.
نویسنده
چکیده
MARCHESANI (1939) first described the syndrome which is named after him, and since the appearance of his report cases have been described in European and American literature. The characteristic features of this syndrome are: (1) Brachycephaly, small stature, short limbs, brachydactyly, short squat fingers and toes with broad hands and feet, limitation of movement at the joints, and well-developed musculature and subcutaneous fat; (2) Spherophakia with microphakia, iridodonesis, visibility of the zonule, lenticular myopia, and glaucoma.
منابع مشابه
[Weill-Marchesani syndrome].
Weill-Marchesani syndrome is a rare systemic connective tissue disease characterized by short stature, brachydactyly, ectopia lentis and spherophakia. This was first reported by Weill in 1932 and subsequently well characterized by Marchesani in 1939(1). Genetically this syndrome often shows autosomal recessive inheritance. Frequent consanguinity between parents support this model. There have be...
متن کاملRetinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder with characteristic phenotypic skeletal and ocular manifestations. A 28-year-old myopic female presented with an 8-month history of bilateral blurred vision. On examination, she was noted to be of short stature with brachydactyly. On ocular examination, she was found to be spherophakic with bilateral inferiorly subluxated lens...
متن کاملWeill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature 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. CASE PRESENTATION 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. Surprisingly, slit lamp ex...
متن کاملA Case of Weill-Marchesani Syndrome with Inversion of Chromosome 15
PURPOSE To present a case of Weill-Marchesani syndrome with corneal endothelial dysfunction due to anterior dislocation of a spherophakic lens and corneolenticular contact. METHODS A 17-year-old woman presented with high myopia and progressive visual disturbance. She was of short stature and had brachydactyly. Her initial Snellen best corrected visual acuity (BCVA) was 20/50 (-sph 20.50 -cyl ...
متن کاملAnesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome.
Weill-Marchesani syndrome (WMS) is a genetic connective tissue disorder associated with fibrous tissue hyperplasia. Weill-Marchesani syndrome is characterized by short stature, broad head and other facial abnormalities such as hypoplastic maxilla and distinctive ocular abnormalities. Joint stiffness is one of the features of this syndrome. We report 5 cases with classical features of WMS who we...
متن کاملHistology of the lens in the Weill-Marchesani syndrome.
The Weill-Marchesani syndrome is a rare systemic connective tissue disease characterised by small stature, brachydactyly, ectopia lentis, and spherophakia. Three siblings with typical manifestations of this syndrome were reported. The ophthalmological findings in all these cases were spherophakia, severe myopia, a shallow anterior chamber, and narrow angle glaucoma. Two cases underwent laser ir...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 45 5 شماره
صفحات -
تاریخ انتشار 1961