Stickler syndrome in children: a radiological review

McArthur, Nicholas; Rehm, Andreas; Shenker, Nick; Richards, Allan J.; McNinch, Annie; Poulson, Arabella; Tanner, J. M.; Snead, Martin P.; Bearcroft, P.W.P.

doi:10.1016/j.crad.2018.03.004

Cited by 9 publications

(11 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… Occasionally, platyspondyly (flattened vertebra) is misdiagnosed as vertebral fracture (osteoporosis). No known disease modification is available but quality of life can be improved with pain management, including physiotherapy, and treatment of co-morbid sleep and mood disturbances Early education and support are essential for optimal quality of life with appropriate education of employers and support services with regards to diagnosis and prognosis [ 18 ]. …”

Section: Case Studymentioning

confidence: 99%

See 1 more Smart Citation

Stickler syndrome – lessons from a national cohort

Snead

Richards

McNinch

et al. 2021

Eye

Self Cite

View full text Add to dashboard Cite

In 2011 NHS England commissioned a new national specialist MDT service for patients and families affected by Stickler syndrome. The Stickler syndromes form part of the spectrum of inherited vitreoretinopathies and are the most common cause of retinal detachment in childhood and the most common cause of familial retinal detachment. Now in its 10th year, the Stickler Highly Specialised Service (HSS) has assessed 1673 patients from 785 families. Using a combination of accurate phenotyping and molecular genetic analysis it is possible to identify the underlying genetic mutation in over 95% of cases including those with deep intronic mutations likely to be missed by conventional exome panel analysis and which require whole gene sequencing and supplementary functional analysis to confirm pathogenicity. The vast majority that presents to ophthalmologists will be from one of three autosomal dominant sub-groups with a high associated risk of retinal detachment but the diagnosis is often overlooked, especially in adults. In contrast to many other blinding retinal conditions, blindness through giant retinal tear detachment particularly in children is largely preventable provided these high-risk groups are identified and appropriate evidence-based prophylaxis offered. This article summarises ten selected briefcase histories from the national dataset with key learning points from each.

show abstract

Section: Case Studymentioning

confidence: 99%

“…Early education and support are essential for optimal quality of life with appropriate education of employers and support services with regards to diagnosis and prognosis [ 18 ].…”

Section: Case Studymentioning

confidence: 99%

Stickler syndrome – lessons from a national cohort

Snead

Richards

McNinch

et al. 2021

Eye

Self Cite

View full text Add to dashboard Cite

show abstract

“…In addition, physical abnormalities, especially in the face, are very typical of this syndrome and are negatively correlated with HRQoL and behavior [ 16 , 17 ]. Furthermore, studies that summarize the clinical manifestation and psychosocial factors in these children are necessary to obtain an early diagnosis [ 18 ] and a better understanding of factors that may influence the development of this population, which may be clinically relevant for future treatment goals related to bone disorders [ 19 ], pain and, consequently, loss of quality of life. To our knowledge, no studies on children and adolescents measured the impact of SS on their quality of life.…”

Section: Introductionmentioning

confidence: 99%

Quality of Life in Children and Adolescents with Stickler Syndrome in Spain

et al. 2022

View full text Add to dashboard Cite

Objective: To describe the quality of life and daily functioning of Spanish children and adolescents living with Stickler syndrome (SS) and to estimate the prevalence of associated disease features in a representative sample. Methods: A cross-sectional study of children and adolescents with SS were recruited via telephone calls through the Spanish SS Association. All participants underwent a structured clinical interview and filled in questionnaires reporting their quality of life (EuroQol-5D, TSK-11, CHAQ and PedsQoL). The prevalence of the main features associated with the syndrome and the mean scores of the questionnaires were estimated with 95% confidence intervals (95% CI). Results: The recruited sample included 26 persons who were mainly children (mean age 10.4 ± 4.5 (SD) range: 5–14) and male (65.4%). The prevalence estimates of SS features were as follows: the presence of moderate pain (52%), hearing loss 67% (95% CI: 54.8 to 91.3) and myopia 96% (95% CI: 87.2 to 104.4). The mean scores of the QoL indices were as follows: 22.4 (95% CI: 19.2 to 25.5) (± 7.5) for TSK-11; 76.2 (95% CI: 68.8 to 83.6) (± 17.1) for PedsQoL, 0.8 (95% CI: 0.7 to 0.9) (± 0.3) for EQ-5D and 0.61 (95% CI: 0.24 to 1.0) (± 0.9) for the cHAQ functional index. Conclusions: Our results confirmed a high variability in syndrome-related manifestations, with a large prevalence of visual and hearing deficits, pain and maxillofacial alterations. These findings may facilitate the detection of the most prevalent problems in this population, which could be a target to be addressed during the treatment of children and adolescents with SS.

show abstract

“…Stickler Syndrome (STL) (OMIM 108300, 604841, 184840) is a clinically variable and genetically heterogeneous collagenopathy that affect types II, IX, and XI collagen expressed in cartilage, vitreous, and connective tissues. It is estimated an incidence of ~ 1:7,500–9,000 newborns (McArthur et al., 2018; Printzlau & Andersen, 2004) being classified as a rare disease (5–7 individuals in 10,000) (Auvin, Irwin, Abi‐Aad, & Battersby, 2018). The diagnosis of STL is clinically based, but there is still no consensus on minimal clinical diagnostic criteria and, molecular genetic analysis can be used for diagnosis confirmation (Kohmoto et al., 2015; Robin, Moran, & Ala‐Kokko, 2017).…”

Section: Introductionmentioning

confidence: 99%

“…Mutations in COL11A1 gene have been associated with autosomal dominant disorders such as STL type II (OMIM 604841) and Marshall Syndrome (OMIM 154780) and with Fibrochondrogenesis 1 (OMIM 228520) a recessive skeletal dysplasia (Lauritsen et al., 2017; Majava et al., 2007; Tompson et al., 2010; Vijzelaar et al., 2013). STL phenotype of COL11A1 mutations is associated to vitreoretinal anomalies and sensorineural hearing loss (McArthur et al., 2018), whereas COL11A2 has a non‐ocular phenotype. A clinical overlap is commonly observed between Marshall Syndrome and STL cases, even expecting a more severe phenotype in a patient affected by Marshall syndrome, when facial characteristics are not very specific the diagnosis can be difficult to define.…”

Section: Introductionmentioning

confidence: 99%

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

Brizola

Gnoli

Tremosini

et al. 2020

Molec Gen & Gen Med

View full text Add to dashboard Cite

Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthritis. COL2A1, COL11A1, and COL11A2 mutations account of the majority of autosomal dominant Stickler Syndrome and, in particular, a heterozygous mutation in COL11A1 gene is identified in about 10 to 20% of Stickler Syndrome patients. Methods Herein, we report a case of an 8‐year‐ old child with Stickler Syndrome, presenting with early‐onset of myopia with vitreal abnormalities, facial dysmorphic characteristics, and mild hearing loss later in childhood. To identify the underlying genetic cause, Whole Exome Sequencing was carried out for COL11A1 gene. Results A novel de novo heterozygous splice site variant (NM_001854: c.1845 + 5G> C) of the COL11A1 gene, which had not been previously reported, was identified by Whole Exome Sequencing. Conclusion We reported a novel COL11A1 mutation in a child with Stickler Syndrome presenting a phenotype of early‐onset of ocular anomalies and mild hearing loss later in childhood. Our findings confirm the variability of the expression of the disease, even in the contest of the same gene‐related disorder, thus, contributing to improve the knowledge on clinical and molecular basis of this rare disease.

show abstract

Stickler syndrome in children: a radiological review

Cited by 9 publications

References 22 publications

Stickler syndrome – lessons from a national cohort

Stickler syndrome – lessons from a national cohort

Quality of Life in Children and Adolescents with Stickler Syndrome in Spain

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

Contact Info

Product

Resources

About