• The cause of branchio-oto-renal syndrome are mutations in genes, EYA1 , SIX1 , and SIX5 (approximately 40 percent of those born with this condition have a mutation in the EYA1 gene). (wikipedia.org)
  • 3,5 This article describes hip dysplasia and genu valgum in a patient with Fraser syndrome. (healio.com)
  • Shafeghati Y, Kniepert A, Vakili G, Zenker M. Fraser syndrome due to homozygosity for a splice site mutation of FREM2 . (arizona.edu)
  • We are investigating if genes in people with Down's syndrome may be the cause. (cardiff.ac.uk)
  • We also identified the Down syndrome cell adhesion molecule ( Dscam ) as a novel regulator of retinogeniculate refinement, although other genes in the DSCR are necessary to enhance segregation in trisomy. (jneurosci.org)
  • Conditions that clinically appear to be partial phenocopies of Holt-Oram syndrome arise from distinct disease genes. (ahajournals.org)
  • Although CAKUTs are a part of many known syndromes, only few single-candidate causative genes have been implicated so far in nonsyndromic cases of human CAKUT. (hindawi.com)
  • See Fraser syndrome 1 ( 219000 ) for additional features that may be present in Fraser syndrome. (arizona.edu)
  • Although many forms of CAKUT occur in the context of multiorgan malformation syndrome ( http://www.ncbi.nlm.nih.gov/omim ), most cases of CAKUT are nonsyndromic [ 16 ]. (hindawi.com)
  • A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. (nih.gov)
  • Genetic Heterogeneity In 6 of 18 consanguineous families with Fraser syndrome, van Haelst et al. (wikipedia.org)
  • In 5 families with Fraser syndrome, McGregor et al. (wikipedia.org)
  • Among 18 consanguineous families with Fraser syndrome, van Haelst et al. (wikipedia.org)
  • Talita Lopes de Oliveira and Giselle Rodrigues de Sant'Anna, "Fraser Syndrome-Oral Manifestations and a Dental Care Protocol," Case Reports in Dentistry , vol. 2014, Article ID 486108, 5 pages, 2014. (hindawi.com)
  • Shaken Baby Syndrome is a subset of Abusive Head Trauma characterized by repetitive acceleration-deceleration forces with or without blunt head impact resulting in a unique complex of ocular, intracranial, and sometimes other injuries, usually in infants…it has become widely recognized as one of the most serious manifestations of physical child abuse. (dontshake.org)
  • Individuals with Fraser syndrome have abnormal or absent tear ducts and widely spaced eyes (hypertelorism). (encyclopedia.com)
  • In May 2018, The Society for Pediatric Radiology (SPR), European Society of Paediatric Radiology (ESPR), American Society of Pediatric Neuroradiology (ASPNR), American Academy of Pediatrics (AAP), European Society of Neuroradiology (ESNR), American Professional Society on the Abuse of Children (APSAC), Swedish Paediatric Society, Norwegian Pediatric Association and Japanese Pediatric Society published a joint consensus statement on abusive head trauma/shaken baby syndrome. (dontshake.org)
  • Anaesthesia for bilateral pulmonary banding as part of hybrid-stage I approach palliating neonates with hypoplastic left heart syndrome. (amedeo.com)
  • Association of Turner syndrome with hypoplastic left-heart syndrome. (medscape.com)
  • Guillain-Barre syndrome is a disorder characterized by the body's immune system attacking its peripheral nervous system. (emoryhealthcare.org)
  • Familial Cold Autoinflammatory Syndrome is a rare inflammatory disorder characterized by fever, rash and arthralgia after generalized exposure to cold temperatures. (rareshare.org)
  • The Cardiff Down's syndrome cohort was first set up in 1992 by Bill Fraser and Maggie Woodhouse. (cardiff.ac.uk)
  • As you can imagine, over the years we have amassed a wealth of important information regarding visual development in children with Down's syndrome, which helps us understand how their vision can be optimised. (cardiff.ac.uk)
  • It is important that we relay this information to others who work closely with people with Down's syndrome, for example parents and families , teachers and relevant professionals . (cardiff.ac.uk)
  • Looking in detail at the prevalence and types of squint (eye-turn) in children with Down's syndrome and the ways in which the two eyes work together. (cardiff.ac.uk)
  • Measuring and cataloguing the differences in the retina between people with Down's syndrome and ordinary people. (cardiff.ac.uk)
  • Studying refractive errors (long or short-sight) in children with Down's Syndrome. (cardiff.ac.uk)
  • Up to 15% of people with Down's syndrome have Keratoconus, which is far more than the general population. (cardiff.ac.uk)
  • The purpose of this study was to discover whether anything is disrupting this flow of visual information in children with Down's syndrome. (cardiff.ac.uk)
  • A former campaign manager for Donald Trump provoked an angry backlash on Tuesday night by apparently dismissing a story about a girl with Down's syndrome reportedly separated from her mother at the US border with a sarcastic 'Womp womp. (telegraph.co.uk)
  • Congenital non-chylous pleural effusion with Down's syndrome. (bmj.com)