Presentation
Abstract Objective: To describe the presenting features of Weill-Marchesani syndrome Case: A 22-year-old man presented with high myopia and progressive visual disturbance. He was of short stature and had brachydactyly. [nepjol.info]
Case presentation A 30-year-old female presented at our hospital with blurred vision in her left eye for the past year. [bmcophthalmol.biomedcentral.com]
Both patients presented with increasing myopia and advanced glaucomatous damage. Laser iridotomy was ineffective in deepening the anterior chamber. The first patient developed a flat anterior chamber after trabeculectomy. [ncbi.nlm.nih.gov]
We present two families each with affected individuals in 3 generations demonstrating autosomal dominant inheritance of Weill-Marchesani syndrome. Linkage analysis in these 2 families suggests a gene for Weill-Marchesani syndrome maps to 15q21.1. [ohsu.pure.elsevier.com]
Gastrointestinal
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Regurgitation
Echocardiography showed a mitral valve velocity of 0.7 m/s (2 mmHg), grade I mitral regurgitation and moderate tricuspid valve regurgitation. His mitral valve annulus diameter was 16 mm. [academic.oup.com]
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. Indian J Anaesth [serial online] 2011 [cited 2019 May 13];55:428-30. [ijaweb.org]
Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the [ncbi.nlm.nih.gov]
Skin
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Flushing
Other features that may occur include seizures, psychiatric problems, and extrapyramidal signs including dystonia, hypopigmentation, pancreatitis, malar flush, and livedo reticularis. [ncbi.nlm.nih.gov]
Eyes
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Microphakia
He also had severe myopia, microphakia and the same characteristic features as his father corresponding to Weill–Marchesani syndrome (joint stiffness). [academic.oup.com]
Musculoskeletal
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Skeletal Dysplasia
dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane [en.wikipedia.org]
dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome Neurocutaneous syndrome Nodular embryo Noonan syndrome Noonan's syndrome Oculo-cerebro-cutaneous syndrome Oculodentodigital syndrome Oculodento-osseous dysplasia [icd9data.com]
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Unable to Make a Fist
She had joint stiffness at the elbows with reduced motility (supination 23 ) and was unable to make a fist with both hands. [ncbi.nlm.nih.gov]
Neurologic
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Opisthotonus
Sulfite oxidase deficiency is a rare disorder of lens luxation with severe neurologic symptoms: untreatable seizures, opisthotonus, attenuated growth of the brain, and intellectual disability. [ncbi.nlm.nih.gov]
Workup
Serum
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Methionine Increased
The cardinal biochemical features of homocystinuria are markedly increased concentrations of plasma homocystine, total homocysteine, and methionine; increased concentration of urine homocystine; and reduced cystathionineβ-synthase (CBS) enzyme activity [ncbi.nlm.nih.gov]
Treatment
Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. [en.wikipedia.org]
More on Genetics of Weill-Marchesani syndrome » Treatments: Weill-Marchesani syndrome Treatment : There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. [familydiagnosis.com]
To describe the surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. [ncbi.nlm.nih.gov]
Prognosis
Treatment and Prognosis Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma. [1] However, long term medical management of glaucoma has not proven to be successful for patients with Weill-Marchesani syndrome [wikidoc.org]
Treatment and prognosis [ edit ] Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma. [2] However, long term medical management of glaucoma has not proven to be successful for patients with Weill–Marchesani [en.wikipedia.org]
Treatment and prognosis Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma. [2] However, long term medical management of glaucoma has not proven to be successful for patients with Weill–Marchesani syndrome [ipfs.io]
The prognosis is influenced by the type and localization of the protein. The family history is inconspicuous in about 25% of established cases of MFS1. These are new mutations. [aerzteblatt.de]
[…] of choice in early cases of Weill–Marchesani syndrome with narrow angles in which the lens is neither cataractous nor subluxated, especially in patients with pupillary block. 12 Early iridectomy has few complications and may often improve the visual prognosis [healio.com]
Etiology
As ectopia lentis may be the first sign of a more serious systemic disease, it is important to determine the etiology for appropriate patient management. [eyewiki.aao.org]
Prevention
Managment includes Laser peripheral iridectomy in all cases to prevent pupillary block glaucoma and Miotics are recommended to prevent anterior dislocation of lens. Image courtesy: mrcophth.com [simplyeye.net]
Complete lack of zonular support prevented an attempt to leave the peripheral capsule in place, and a large core vitrectomy was performed. On the next day, the IOP was 14 mm Hg, the anterior chamber was deep, and the IOL was well centered. [healio.com]
As she was a monocular patient, we tried to lower the IOP immediately to prevent further damage to the optic nerve and preserve her remaining vision. [bmcophthalmol.biomedcentral.com]
Brachydactyly and stiff joints prevent patients from making a tight fist. A few patients (13%) have some mild mental deficit but most have normal intelligence. [disorders.eyes.arizona.edu]