Marshall/Stickler syndrome.
نویسنده
چکیده
منابع مشابه
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gen...
متن کاملSignificant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report
BACKGROUND The Marshall-Stickler phenotype is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. CASE PRESENTATION A 5-year-old boy from non-consanguineous family in Austria was born with features of Pierre-Robin association (cleft palate, micrognathia, and glossoptosis). Radiological examinatio...
متن کاملCongenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype
We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit-lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit-lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pach...
متن کاملA novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
BACKGROUND Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. CASE PRESENTATION A 2-year-old J...
متن کاملThe Marshall and Stickler syndromes: objective rejection of lumping.
To answer the question of whether nosological splitting of the Marshall and Stickler syndromes is justified at the phenotypic level, we surveyed published reports on the two syndromes and applied an objective method to determine this. A set of 18 patients with clinical description, photographs, and radiographs was used to tabulate a list of 53 signs. Cluster analysis using these signs showed th...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 19 2 شماره
صفحات -
تاریخ انتشار 1982