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]

Autosomal Recessive Weill-Marchesani syndrome often presents with microspherophakia and cardiac anomalies.[2] Autosomal Dominant Weill-Marchesani syndrome often presents with ectopia lentis and joint limitations.[2] Genetics Weill-Marchesani syndrome [eyewiki.aao.org]

Some patients also present with congenital glaucoma, or may develop in later years. [accessanesthesiology.mhmedical.com]

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]

• Broad Thorax

  thorax [ 1 ]. [link.springer.com]

• Systolic Murmur

  His physical examination did not reveal any abnormality except grade II systolic murmur. He had nominal maxillary hypoplasia, limited extension of neck (up to 30°), malalignment of upper teeth. [ijaweb.org]

• 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]

• Low Set Ears

  A 14-year-old girl presented with short stature, short and stubby fingers, hypodontia and low-set ears. Slit-lamp examination revealed microspherophakia, with shallow anterior chambers with irido and phacodonesis. [ijo.in]

  She also had contracture of hands, low-set ears and hypodontia. Ocular examination revealed hypertelorism, shallow anterior chamber, microspherophakia with a few lens opacities, iridodonesis and phacodonesis [Fig. 1b]. [journals.lww.com]

• Severe Short Stature

  WMS is characterized by short limbs, joint stiffness and ocular defects, whilst fibrillin-1 AD and GD have severe short stature, joint defects and thickened skin. We previously showed that TB5 binds heparin. [journals.plos.org]

• 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]

• Round Face

  face in stiff attitude, hypertelorism, depressed nasal bridge, osteoporosis, short and stubby hands, fingers, feet, and toes (brachydactyly; Fig. 1 ), restricted articular movements (hypoextendable joints or the fingers that cannot be fully made into [link.springer.com]

• 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]

• 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]

• Hypocapnia

  Elective hyperventilation was used to produce mild hypocapnia. Surgery lasted for two and half hours. After reversal of muscle paralysis RLMA was removed when the patient became completely awake. His perioperative course was uneventful. [ijaweb.org]

• Prolonged QT Interval

  Cardiac defects include patent ductus arteriosis, pulmonary stenosis, prolonged QT interval mitral valve stenosis, and mitral valve prolapse. Some heterozygous carriers also are short in stature and may have joint stiffness. [disorders.eyes.arizona.edu]

  Cardiovascular defects may include a patent ductus arteriosis, pulmonic stenosis, thoracic aortic aneurysm, cervical artery dissection, or prolonged QT interval.[3] Radiographic findings may include shortened long tubular bones, delayed bone age, and [eyewiki.aao.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]

Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. [en.wikipedia.org]

Treatment Treatment Options: Dislocated lenses should be removed if they are interfering with vision or migrate into the anterior chamber. A peripheral iridotomy should be considered in cases where pupillary block glaucoma occurs. [disorders.eyes.arizona.edu]

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]

Individuals should be counseled on the risk of ocular complications with contact sports.[3] Prognosis Weill-Marchesani syndrome has a good prognosis with early detection. [eyewiki.aao.org]

[citation needed] Treatment[edit] Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma.[2] Prognosis[edit] However, long term medical management of glaucoma has not proven to be successful for patients with [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]

It is probably an inherited disease of unknown etiology manifesting itself in organs of mesodermal origin. [link.springer.com]

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]

Lester CW : The etiology and pathogenesis of funnel chest, pigeon breast and related deformities of the anterior chest wall, J. Thoracic Surg. 34: 1, 1957. Google Scholar 33. [acpjournals.org]

Epidemiology Weill-Marchesani syndrome is a rare disease in the general population. [eyewiki.aao.org]

The prevalence is estimated to be 1 case in 100,000 in the population.[3] Pathophysiology Decreased visual acuity results from increased refractive power of the hyper-spherical lens. This spherical change results in myopia. [eyewiki.aao.org]

Pathophysiology of zonular diseases. Curr Opin Ophthalmol. 2008;19(1):27–30. doi:10.1097/ICU.0b013e3282f29f01 5. Faivre L, Gorlin RJ, Wirtz MK, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. [dovepress.com]

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]

Early removal of the microspherophakic lens is recommended to improve visual acuity, control intraocular pressure, and to prevent pupillary block and glaucoma. Glaucoma can be managed with peripheral iridectomy and trabeculectomy. [eyewiki.aao.org]

Antibioprophylaxis given as needed to prevent endocarditis as indicated. Medications for glaucoma include the organophosphates such as echothiophate and isofluorphate. [accessanesthesiology.mhmedical.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]