Marshall syndrome | |
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Other names: Deafness, myopia, cataract, saddle nose-Marshall type [1] | |
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Marshall syndrome and Stickler syndrome is inherited in an autosomal dominant pattern. | |
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Marshall syndrome is a genetic disorder of the connective tissue[2] which can cause hearing loss. The most common areas to be affected are the eyes which are uncommonly large, joints and the mouth and facial structures[3][4].
Marshall syndrome and Stickler syndrome closely resemble each other; in fact they are so similar, one may be a subset of the other[5]
One finds that this condition is due to mutations in collagen XI, alpha-1 polypeptide COL11A1 gene, which is located on chromosome 1p21.1.[6][11]Stickler syndrome and Marshall syndrome both have an autosomal dominant pattern of inheritance, however, there is alot of variation within and among families with regard to gene expression.[6]
Some may be more severely affected and others may be very mildly affected, often these syndromes are not recognized in a family until a baby is born with Pierre Robin syndrome or some members have detached retinas or cataracts at a young age.[6][7][5]
COL11A1 gene provides information to create a part of pro-alpha1(XI) chain. Type XI collagen is found in cartilage in the human body.In Marshall syndrome a segment of DNA of the COL11A1 gene is skipped hence an abnormally short pro-alpha1(XI) chain. [12]
Diagnosis is made based on features as well as by the very early onset of serious eye and ear disease. Because Marshall syndrome is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child. There are no tests for Stickler syndrome or Marshall syndrome. It is an area of active research, also the genetic testing being expensive supports that the diagnosis is made depending on the features.[7][1][6]
The DDx for this condition, Marshall syndrome is based on the following:[6]
There is no medical treatment for either syndrome but there are some recommendations that can help with prevention or early identification of some of the problems. Children with either syndrome should have their hearing tested, and adults should be aware that the hearing loss may not develop until the adult years. Yearly visits to an ophthalmologist or other eye care professional who has been informed of the diagnosis of Stickler or Marshall syndrome is important for the affected individual. Children should have the opportunity to have myopia corrected as early as possible, and treatment for cataracts or detached retinas may be more effective with early identification. [9][6]
In terms of the prognosis for Marshall syndrome has medical literature indicating individuals who are in their 30s and 40s, and may have a normal life expectancy. However the severity of symptoms may affect different individuals differently.[1]
Marshall syndrome affects both men and women equally[6]
Research is needed in terms of IOL implantation in the lens capsule for the affected lens in children with congenital cataract[6]
( Marshall-Stickler overlap) Anteroposterior hand radiograph showed, short-stubby hand with large carpal bones associated with pseudoepiphyses of a joint.
Lateral spine radiograph showed platyspondyly associated with anterior clefting of the vertebrae.
( Marshall-Stickler overlap) Anteroposterior pelvis radiograph showed, coxa valga, a hypoplastic ileae, acetabulo-femoral and metaphyseal dysplasia
Classification | |
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