View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com, fully searchable, with regular updates and a downloadable image gallery. [books.google.com]

Although many different surgical procedures have been described, tracheostomy remains the most widely used technique. [emedicine.medscape.com]

Surgical procedures for lengthening the lower jaw or correcting a cleft palate are also available. Eye surgery: Patients with glaucoma and cataracts may require corrective surgery to prevent blindness. [innerbody.com]

Other surgical procedures are used to remove the lenses of eyes affected by cataracts, after which lens implants are used as replacements. Subsequently, contact lenses may help improve sharpness of vision. [rarediseases.org]

RESULTS: A novel homozygous COL9A1 mutation (p.R507X) was identified in two affected Turkish sisters, and the previously published mutation (p.R295X) was found in a Moroccan boy. [ncbi.nlm.nih.gov]

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. J Hum Genet 2016; 62 : 447–451. 16. Guo L, Girisha KM, Iida A, Hebbar M, Shukla A, Shah H et al. [nature.com]

Contains thorough content updates in every area of retina, including advanced imaging technologies, gene therapy, inflammation and immune responses, white dot syndromes, epigenetic mechanisms, transplantation frontiers to improve retinal function, macular [books.google.com]

Joint pain and stiffness upon rest are frequent findings, and many individuals develop inflammation of the joints during the third or fourth decade of life (early-onset osteoarthritis). [rarediseases.org]

Exogenous human surfactant for treatment of severe respiratory distress syndrome: a randomized prospective clinical trial. ‎ [books.google.es]

distress or failure to thrive. [emedicine.medscape.com]

[…] sucking/swallowing, surgical maxillo-facial Phenotypes Amblyopia ; Astigmatism ; Cataract ; Cleft palate ; Epiphyseal dysplasia ; Flat face ; Genu valgum ; Irregular vertebral endplates ; Joint hyperflexibility ; Malar flattening ; Micrognathia ; Myopia ; Platyspondyly [beta.mousephenotype.org]

Problems with the bones of the spine ( vertebrae ) can also occur, including abnormal curvature of the spine ( scoliosis or kyphosis ) and flattened vertebrae (platyspondyly). These spinal abnormalities may cause back pain. [ghr.nlm.nih.gov]

The deletion segregates in an autosomal dominant fashion. (6) Wolf-Hirschhorn syndrome, which is due to a deletion in the short arm of chromosome 4, is also associated with oral clefts (in 25% to 50% of affected individuals). [perioimplantadvisory.com]

Recessive Stickler Syndrome Synonyms - Classification bone, developmental, eye, genetic, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial Phenotypes Amblyopia ; Astigmatism ; Cataract ; Cleft palate ; Epiphyseal dysplasia ; Flat face ; Genu [beta.mousephenotype.org]

Amblyopia ; Astigmatism ; Cataract ; Cleft palate ; Epiphyseal dysplasia ; Flat face ; Genu valgum ; Irregular vertebral endplates ; Joint hyperflexibility ; Malar flattening ; Micrognathia ; Myopia ; Platyspondyly ; Retinal detachment ; Sensorineural hearing [beta.mousephenotype.org]

Pierre Robin sequence, hearing impairment/loss and joint hypermobility are common. Eye manifestations include high myopia, cataract, retinal detachment, and vitreous abnormalities. [egl-eurofins.com]

Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Review. Acke FR, Dhooge IJ, Malfait F, De Leenheer EM. Hearing impairment in Stickler syndrome: a systematic review. [ghr.nlm.nih.gov]

Hearing impairment is common in STK-affected individuals and it can be of variable degree and is commonly progressive: Sensorineural hearing impairment with typically high-tone is diagnosed in 40% of individuals 1, 2 Overall sensorineural hearing loss [centogene.com]

Hearing impairment in Stickler syndrome. Advances in Oto-Rhino-Laryngology, 61, 216–223. CrossRef PubMed Google Scholar Alshahrani, S., Ghazi, B. N. G., & Al-Rashaed, S. (2015). [link.springer.com]

[…] symbols: CO11A1, COLL6, STL2 ), COL9A3 (Withdrawn symbols: DJ885L7.4.1, EDM3, FLJ90759, IDD, MED ), COL9A1, COL9A2 (Withdrawn symbols: EDM2, MED ) Mouse Orthologs Col11a1 (Withdrawn symbols: C530001D20Rik, cho ), Col9a3 (Withdrawn symbols: AV006866 ) [beta.mousephenotype.org]