Significant short stature present in our patient has not been reported previously. In previous reports height was reported to be normal in most patients [5, 6]. [hindawi.com]

Acronym STL1O Synonyms Stickler syndrome atypical Stickler syndrome predominantly ocular Wagner syndrome 2 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

In this case, the timely identification of a subclinical retinal detachment in the right eye at presentation facilitated preventative intervention to this eye. The timing of this presentation is unlikely to represent a coincidence. [docksci.com]

At presentation, 22 (31.4%) eyes had a giant tear, six (8.6%) eyes had a horseshoe break, single breaks were present in seven (10.0%) eyes, multiple breaks in 35 (50%) eyes, and macular hole in two (2.85%) eyes. [dovepress.com]

Weiss ring also presents but not in all cases d. A Marcus-Gunn pupil (relative afferent pupillary defect) is present in eyes with extensive e. RDs irrespective of the types f. [gradestack.com]

• Proportionate Short Stature

  On physical examination his weight, height, and head circumference were 22 kg (between 0 and 1 SD), 99 cm ( 3 SD proportionate short stature), and 47.8 cm ( 3 percentiles), respectively. [hindawi.com]

  short stature, brachydactyly, and joint stiffness [20]. [rbht.nhs.uk]

• Turkish

  A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. Am J Med Genet A. 2011;155A(1):180-185. Google Scholar Crossref Medline ISI 32. Tokgoz-Yilmaz, S, Sahli, S, Fitoz, S, et al. [journals.sagepub.com]

• Short Finger

  In contrast, our patient showed a broad thorax and short fingers and toes [6]. Short stature despite involving both appendicular and axial skeleton maintained proportion in our case. [hindawi.com]

• Corneal Opacity

  In our case, eye findings were high myopia, vitreous changes, corneal opacity, uveitis, and ptosis. [hindawi.com]

  opacity Premature osteoarthritis Retinopathy Short neck Long fingers Kyphosis Spondyloepiphyseal dysplasia Bifid uvula Joint hypermobility Arachnodactyly Depressed nasal bridge Broad forehead Hyperlordosis Hypoplasia of the maxilla Narrow chest Micromelia [mendelian.co]

  opacities, heart, liver and spleen problems1 Enlarged Vestibular Aqueduct An enlarged vestibular aqueduct apparently is the result of hydrodynamic changes and possibly labyrinthine membrane disruption. [juniperpublishers.com]

• Blepharoptosis

  Ocular abnormalities include blepharoptosis, microopthalmia, epibulbar tumors, and retinal abnormalities leading to reduced visual acuity. 20. Rubella i. Consists of a triad characterized by deafness, congenital cataracts and heart defects. ii. [juniperpublishers.com]

• Platyspondyly

  Features of midface hypoplasia, early onset high grade myopia, platyspondyly, and epiphyseal changes are compatible with differential diagnosis of acromesomelic dysplasia (AMD) (mesomelic shortening, platyspondyly, brachydactyly, prominent first toes, [hindawi.com]

  SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. [abcam.com]

  […] loss Platyspondyly Scoliosis - - - Patient IV 7 Phenotypic characterization Cleft palate Myopia Conductive hearling loss Platyspondyly Scoliosis Waddling Patient V 9 Phenotypic and mutation of COL2A1 Cleft palate Myopia Hypermobile tympanic membrane [medsci.org]

  The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. [mendelian.co]

• Osteopenia

  Diffuse osteopenia was evident at the epiphysis of bilateral femora and tibiae which were normal in shape, apart from mild flattening of the distal femoral epiphyses. [hindawi.com]

  Large osteophytes associated with marked narrowing of the joint spaces, sclerosis and subsequent deformity of the bony contour, coxa valga and osteopenia were present (fig 6). [medsci.org]

  […] percentile by age/race/sex), joint laxity, hyperextensible joints, arachnodactyly or long fingers, dolichostenomelia or long limbs, scoliosis, pectus deformities of the anterior chest wall, congenital contractures of the digits and elbows, and generalized osteopenia [e-tjo.org]

• Thick Lips

  Facial features revealed midface hypoplasia, depressed nasal bridge, micrognathia, thick lips, and wide mouth. The left eye was smaller than the right along with eye ptosis and corneal opacity (Figure 1). [hindawi.com]

  Gene mapped to Xq 28 and is labelled as IDS CHL, Chronic middle ear disorder, glue ear, progressive HL I Symptoms Short stature, cognitive defects, Thick lips, alveolar ridge hypertrophy, thickening of palate, abnormal retinal pigmentation, retinal degenration [juniperpublishers.com]

Due to the retrospective nature of our study, the lack of a genetic workup and family evaluation, we were unable to analyze the pattern of inheritance in the study cohort. [dovepress.com]

Approaches to decipher the genetic causes of RRD have included genome-wide association studies of large samples of unrelated patients, as well as clinical and genetic workup of families with hereditary forms of RRD. [ophthalmologyretina.org]

‘Neuropathy screen’ blood tests The neuropathy blood workup was negative in all patients tested apart from a positive ANA in one individual (1-IV:3, titre 1:1280), but all other autoimmune and inflammatory markers were normal. [academic.oup.com]

• Schmorl's Nodes

  They found scoliosis in 34% cases, 74% endplate abnormalities, 64% Schmorl’s nodes, 43% platyspondyly, and Scheuermann-like kyphosis in 43% [8]. [hindawi.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Differential diagnosis The differential diagnosis includes other type II/XI collagenopathies: Knobloch syndrome Wagner syndrome Multiple epiphyseal dysplasia Kniest dysplasia (Metatropic dwarfism, type II) General treatment Treatment of Stickler syndrome [eyewiki.aao.org]

Take-home point No. 2: Angiography is essential for accurate diagnosis and successful treatment of patients with FEVR. Treatment Options Treatment of FEVR should be guided by the stage of disease. [retinatoday.com]

Early identification of ocular and auditory abnormalities allows early treatment and prevention of complications. Correct diagnosis allows prognosis of and surveillance for skeletal complications and genetic counseling for affected families. [hindawi.com]

Treatment Treatment Options: The combination of progressive vitreoretinal degeneration, frequency of posterior vitreous detachments, and axial myopia creates a lifelong threat of retinal tears and detachments. [disorders.eyes.arizona.edu]

Correct diagnosis allows prognosis of and surveillance for skeletal complications and genetic counseling for affected families. Competing Interests The authors declare that there is no conflict of interests regarding the publication of this paper. [hindawi.com]

Prognosis Prognosis depends on the severity of the signs present. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis The prognosis of lattice degeneration is generally good. Patient Education Educate the patient on signs of retinal detachment. Encourage annual follow-up for dilated eye examinations. [emedicine.medscape.com]

Prognosis There is currently no available data on long-term visual prognosis of Stickler syndrome; however, prophylactic treatment to prevent retinal detachment is expected to improve long term visual prognosis. [eyewiki.aao.org]

[…] a) Prognosis is poor and the patient is likely to be registered as visually impaired within 12 months b) The prognosis is generally good with this condition although may progress to become visually debilitating c) The condition is always asymptomatic [aop.org.uk]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.com]

Etiology Stickler syndrome type 1 is caused by mutations in the COL2A1 gene (12q13.11-q13.2), Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21) and Stickler syndrome type 3 (without ocular signs; see this term) is caused by mutations [orpha.net]

Indian Journal of Ophthalmology. 2010; 58(3): 254-255 [Pubmed] 5 Etiology and management of hyperimmunoglobulinemia e syndrome Gonzalez-Granado, L.I. Indian Journal of Ophthalmology. 2010; 58(3): 254 [Pubmed] [ijo.in]

Etiology Types 1-4 Stickler syndrome are classically inherited in an autosomal dominant fashion [3], though a significant number of cases may be sporadic. [2] Risk Factors The only known risk factor for Stickler syndrome is a family history of the condition [eyewiki.aao.org]

[…] data: Class of prevalence: unknown Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant Epidemiological data: Class of prevalence: 1 / 1 000 000 Average age onset: adulthood Average age of death [csbg.cnb.csic.es]

Zurück zum Zitat Sasaki K, Ideta H, Yonemoto J, Tanaka S, Hirose A, Oka C (1995) Epidemiologic characteristics of rhegmatogenous retinal detachment in Kumamoto, Japan. [springermedizin.de]

Sasaki K, Ideta H, Yonemoto J, Tanaka S, Hirose A, Oka C (1995) Epidemiologic characteristics of rhegmatogenous retinal detachment in Kumamoto, Japan. Graefe’s Arch Clin Exp Ophthalmol 233:772–776 Google Scholar 19. [link.springer.com]

Summary Epidemiology Incidence at birth has been estimated at around 1/7,500. [orpha.net]

Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41:47–52. Robin NH et al. Stickler Syndrome. GeneReviews 2000 June 9 (Updated 2014 Nov 26) [asperbio.com]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.com]

Internal Medicine (247) Pathology and Forensic Medicine (222) Paediatrics, Neonatology (214) Physiology and Pathophysiology (164) Medical Chemistry and Biochemistry (129) Genetics (125) Infectology (107) Surgery, Traumatology and Orthopaedics (101) Neurology [portal.mefanet.cz]

[…] disease of the peripheral retina characterized by oval or linear patches of retinal thinning. [1, 2] The prevalence peaks by the second decade and is believed to be minimally progressive but may be complicated by retinal breaks and retinal detachment. [3] Pathophysiology [emedicine.medscape.com]

Pathophysiology: Collagen is an important component of human vitreous. Normal collagen is composed of three fibrils formed from polypeptide chains that are processed into stable trimers. [morancore.utah.edu]

Early identification of ocular and auditory abnormalities allows early treatment and prevention of complications. Correct diagnosis allows prognosis of and surveillance for skeletal complications and genetic counseling for affected families. [hindawi.com]

As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention. [eyewiki.aao.org]

No specific treatment has been proven to prevent or delay progression of ADPKD with the current treatment being nonspecific measures, such as strict blood pressure control, dietary protein restriction, a low-salt diet, and statins, which may prevent progression [clik.dva.gov.au]

In these subjects measures to prevent RRD are an option, even when anatomical substrates of precursors of RRD are absent. [link.springer.com]

Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 and then yearly thereafter. [mayoclinic.org]