Topic
Stickler syndrome
About: Stickler syndrome is a research topic. Over the lifetime, 433 publications have been published within this topic receiving 10924 citations. The topic is also known as: Hereditary progressive arthroophthalmopathy.
Papers published on a yearly basis
Papers
TL;DR: Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis, and the majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype.
Abstract: Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a substantial risk of retinal detachment. Less common ophthalmological features include paravascular pigmented lattice degeneration and cataracts. Non-ocular features show great variation in expression. Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and micrognathia. These features can become less pronounced with age. Midline clefting, if present, ranges in severity from a cleft of the soft palate to Pierre-Robin sequence. There is joint hypermobility which declines with age. Osteoarthritis develops typically in the third or fourth decade. Mild spondyloepiphyseal dysplasia is often apparent radiologically. Sensorineural deafness with high tone loss may be asymptomatic or mild. Occasional findings include slender extremities and long fingers. Stature and intellect are usually normal. Mitral valve prolapse was reported to be a common finding in one series but not in our experience. The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. The remainder with the type 2 vitreous phenotype have mutations in COL11A1 or other loci yet to be identified. Mutations in COL11A2 can give rise to a syndrome with the systemic features of Stickler syndrome but no ophthalmological abnormality.
429 citations
Book•
5 Apr 2010
TL;DR: The author revealed that the most common cause of death in children with Down's syndrome is neonatal encephalopathy, a condition known as “eternal youth’s syndrome”.
Abstract: Foreword. Preface. Contributors. Introduction (S. Cassidy & J. Allanson). Achondroplasia (R. Pauli). Angelman Syndrome (C. Williams). Beckwith--Wiedemann Syndrome (R. Weksberg & C. Shuman). CHARGE Association (C. Oley). Corneiia de Lange Syndrome (M. Ireland). Down Syndrome (A. Hunter). The Ehlers--Danlos Syndromes (R. Wenstrup & L. Hoechstetter). Fetal Alcohol Syndrome (S. Clarren & S. Astley). Fragile X Syndrome (R. Hagerman). Incontinentia Pigmenti (D. Donnai). Klinefelter Syndrome (A. Robinson, et al.). Marfan Syndrome (I. Schrijver, et al.). Neurofibromatosis Type 1 (D. Viskochil). Noonan Syndrome (J. Allanson). Oculo--Auriculo--Vertebral Spectrum (R. Gorlin). Osteogenesis Imperfecta (J. Marini & E. Chernoff). Prader--Willi Syndrome (S. Cassidy). Robin Sequence (R. Shprintzen). Russell--Silver Syndrome (H. Saal). Smith--Lemli--Opitz Syndrome (C. Cunniff). Smith--Magenis Syndrome (A. Smith & A. Gropman). Sotos Syndrome (T. Cole). Stickler Syndrome (D. Wilkin, et al.). Trisomy 18 and Trisomy 13 Syndromes (J. Carey). Tuberous Sclerosis (R. Mueller). Turner Syndrome (V. Sybert). VATER Association (B. Hall). Velo--cardio--facial Syndrome (R. Shprintzen). Williams Syndrome (C. Morris). Index.
373 citations
TL;DR: These results are the first to provide confirmation that type XI collagen is an important structural component of human vitreous and support previous work suggesting that mutations in the genes encoding collagen XI can give rise to some manifestations of Stickler syndrome.
Abstract: Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective tissue dysplasias. There is clinical and locus heterogeneity with about two thirds of families linked to the gene encoding type II procollagen (COL2A1). Families with Sticklers syndrome type 1 have a characteristic congenital vitreous anomaly and are linked without recombination to markers at the COL2A1 locus. In contrast families with the type 2 variety have a different vitreo-retinal phenotype and are not linked to the COL2A1 gene. Type XI collagen is a quantitatively minor fibrillar collagen related to type V collagen and associated with the more abundant type II collagen fibrils. A mutation in COL11A2, the gene for alpha 2 (XI) procollagen, has recently been found in a family described as having Stickler syndrome, although there was no ocular involvement. Here we show for the first time that a family with the full Type 2 Stickler syndrome including vitreous and retinal abnormalities is linked to the COL11A1 gene and characterise the mutation as a Glycine to Valine substitution at position 97 of the triple helical domain caused by a single base G-->T mutation. These results are the first to provide confirmation that type XI collagen is an important structural component of human vitreous. They also support previous work suggesting that mutations in the genes encoding collagen XI can give rise to some manifestations of Stickler syndrome, but of these, only mutations in COL11A1 will give the full syndrome including the vitreo-retinal features.
298 citations
TL;DR: A genomewide screen was conducted to map the gene(s) associated with high, early-onset, autosomal dominant myopia, and evidence of significant linkage was found on chromosome 18p.
Abstract: Summary Myopia, or nearsightedness, is the most common human eye disorder. A genomewide screen was conducted to map the gene(s) associated with high, early-onset, autosomal dominant myopia. Eight families that each included two or more individuals with ⩾−6.00 diopters (D) myopia, in two or more successive generations, were identified. Myopic individuals had no clinical evidence of connective-tissue abnormalities, and the average age at diagnosis of myopia was 6.8 years. The average spherical component refractive error for the affected individuals was −9.48 D. The families contained 82 individuals; of these, DNA was available for 71 (37 affected). Markers flanking or intragenic to the genes for Stickler syndrome types 1 and 2 (chromosomes 12q13.1-q13.3 and 6p21.3, respectively), Marfan syndrome (chromosome 15q21.1), and juvenile glaucoma (chromosome 1q21-q31) were also analyzed. No evidence of linkage was found for markers for the Stickler syndrome types 1 and 2, the Marfan syndrome, or the juvenile glaucoma loci. After a genomewide search, evidence of significant linkage was found on chromosome 18p. The maximum LOD score was 9.59, with marker D18S481, at a recombination fraction of .0010. Haplotype analysis further refined this myopia locus to a 7.6-cM interval between markers D18S59 and D18S1138 on 18p11.31.
271 citations
TL;DR: It is concluded that the triad of Pierre Robin still can be regarded as a clinical entity, readily defined at birth, experiencing the same neonatal problems in varying degrees and hence the possibility of designing treatment protocols for later scientific evaluation.
Abstract: Objective: To give an epidemiological description of the clinical entity given the name Pierre Robin sequence, defined by retro- and micrognathia, cleft palate, and respiratory distress and describe other malformations and possible intrauterine impairment. Methods: Using the inclusion criteria of micrognathia, cleft palate, and neonatal respiratory distress, a retrospective population-based study of all Danish live births during 1990 through 1999 were carried out. We found 50 children, 25 boys and 25 girls, fulfilling the inclusion criteria, giving an incidence of 1 in 14,000 live births. Results: Two-thirds (n = 33) of the children had the classical U-shaped cleft palate. More than one-third (n = 19) had one or several other malformations, and in five patients the triad of Pierre Robin was a minor feature of a complex syndrome. The most common noncomplex syndrome was the Stickler syndrome found in 6 of the 50 patients. More than one-fourth (n = 17) had some kind of intrauterine impairment, with ...
241 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2021 | 34 |
| 2020 | 28 |
| 2019 | 16 |
| 2018 | 19 |
| 2017 | 10 |
| 2016 | 21 |