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Syndromes associated with Robin sequence: a national prospective cohort study.

Alex DaviesAmy DaviesYvonne WrenScott DeaconAlistair CobbNeil McLeanDavid DavidShaheel Chummun
Published in: Archives of disease in childhood (2022)
The presence of a syndrome has implications for management of patients with RS. Early identification of a syndrome may help prevent the consequences of a missed syndromic diagnosis. Routine ophthalmological and genetic screening for Stickler syndrome should be mandatory for all patients with RS.
Keyphrases
  • case report
  • genome wide
  • quality improvement
  • dna methylation
  • copy number