title: Association of the Robin sequence with the fragile X syndrome.
abstract: We report on 4 individuals with the fragile X [fra(X)] syndrome and the Robin sequence (or elements of that sequence). To our knowledge, this association has been described in only one other boy. However, males with the fra(X) syndrome have been reported to have an increased incidence of cleft palate. We recommend that children with a cleft palate or the Robin sequence be assessed for developmental delays and a family history of mental retardation. The fra(X) syndrome may be one of the genetic causes of the Robin sequence and, when indicated, children with the sequence should be tested for fra(X).
authors.affiliation: Child Development Unit, Duke University Medical Center, Durham, North Carolina.
authors.forename: A M
authors.initials: AM
authors.lastname: Lachiewicz
authors.forename: S F
authors.initials: SF
authors.lastname: Hoegerman
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: E
authors.initials: E
authors.lastname: Holmberg
authors.forename: K
authors.initials: K
authors.lastname: Arinbjarnarson
mesh_terms: D002972:Cleft Palate / Q000150:complications* / Q000235:genetics; D005600:Fragile X Syndrome / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D008844:Micrognathism / Q000150:complications* / Q000235:genetics; D014059:Tongue / Q000002:abnormalities*