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Marchesani-Weill Syndrome

Weill-Marchesani Syndrome


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]
  • 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]
  • 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]
  • 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]
Asymptomatic
  • Heterozygotes (carriers) are asymptomatic. Sibs of a proband At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.[ncbi.nlm.nih.gov]
  • The eldest son had thick myopic glasses, and was completely asymptomatic.[healio.com]
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]
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]
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]
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[ipfs.io]
  • 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]
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]
Lordosis
  • Upon examination at age 19 years, the patient presented with short stature (140 cm), muscular build, scoliosis, and an accentuated lumbar lordosis. She was highly myopic ( 13.5 dpt OD and 16 dpt OS).[ncbi.nlm.nih.gov]
Seizure
  • 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]
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

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. However, this disorder has no cure, and generally, treatments are given to improve quality of life.[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]
  • Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder.[wikidoc.org]
  • WebMD does not provide medical advice, diagnosis or treatment. See additional information.[children.webmd.com]

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 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]
  • […] 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]
  • Prognosis An individual’s prognosis depends on any underlying ocular or systemic disease, the degree of subluxation, and the management strategy pursued.[eyewiki.aao.org]

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]

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