title: A new case of Myhre syndrome.
abstract: Myhre Syndrome is a rare condition associated with mental retardation, short stature, generalized muscle hypertrophy, cardiac defects and a distinct facial appearance. There have only been five reported cases and we now present a sixth, together with a review of the clinical features of this syndrome.
authors: Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow. margo.whiteford@yorkhill.scot.nhs.uk
authors: M L
authors: ML
authors: Whiteford
authors: W B
authors: WB
authors: Doig
authors: P A
authors: PA
authors: Raine
authors: A S
authors: AS
authors: Hollman
authors: J L
authors: JL
authors: Tolmie
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male