A new case of Myhre syndrome.
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.
Whiteford
M L
ML
Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow. margo.whiteford@yorkhill.scot.nhs.uk
Doig
W B
WB
Raine
P A
PA
Hollman
A S
AS
Tolmie
J L
JL
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