Hearing impairment in Stickler syndrome.
Hearing impairment in Stickler syndrome.
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DOI：
10.1159/000066812
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发表时间：
2002
影响因子：
--
通讯作者：
R. Admiraal;Y. M. Szymko;A. Griffith;H. Brunner;P. Huygen
中科院分区：
文献类型：
--
作者：
R. Admiraal;Y. M. Szymko;A. Griffith;H. Brunner;P. Huygen
Stickler syndrome is characterized by ocular, orofacial, skeletal, cardiac, auditory and other features. The syndrome is an autosomal dominant connective tissue disorder with an estimated prevalence of 1 in 10,000 births. After the description by Stickler et al.[1] of a family with progressive myopia, retinal detachment and blindness, as well as premature degenerative changes in various joints, the disorder was termed ‘hereditary progressive arthroophthalmopathy’. Subsequently, mild hearing impairment (HI) and radiographic abnormalities were noticed to be part of the syndrome [2]. Hall [3] added the Pierre Robin sequence and typical orofacial features to this syndrome. Mitral valve prolapse was described by Liberfarb and Goldblatt [4]. The syndrome shows higher interfamilial than intrafamilial variability [5]. Stickler syndrome is associated with mutations in COL2A1, COL11A1 and COL11A2. Francomano et al.[6] reported linkage between the ocular Stickler syndrome type I and the type II procollagen gene on chromosome 12. Almost all mutations in the COL2A1 gene cause premature termination codons, and thus lead to reduced amounts of collagen II [7]. The nonocular Stickler syndrome was linked to chromosome 6p22–p21. 3 near the COL11A2 gene by Brunner et al.[8], whereas the mutations were found by Vikkula et al.[9] and Sirko-Osadsa et al.[10]. The fact that the α2 (XI) chain collagen is not found in the vitreous may explain the lack of ocular involvement. Snead and Yates [11], and Spranger [12], proposed the designation of heterozygous otospondylomegaepiphyseal dysplasia (OSMED) instead of nonocular Stickler syndrome because of the similarities to the homozygous OSMED syndrome.
