title: The Myhre syndrome: report of two cases.
abstract: Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick calvarium, broad ribs, hypoplastic iliac wings and short tubular bones. Advanced paternal age at the propositi's birth suggests an autosomal dominant mutation as the cause of MS.
authors.affiliation: División Genética, CIBO-IMSS, Guadalajara, Jalisco, Mexico.
authors.forename: D
authors.initials: D
authors.lastname: García-Cruz
authors.forename: L E
authors.initials: LE
authors.lastname: Figuera
authors.forename: A
authors.initials: A
authors.lastname: Feria-Velazco
authors.forename: J
authors.initials: J
authors.lastname: Sánchez-Corona
authors.forename: M O
authors.initials: MO
authors.lastname: García-Cruz
authors.forename: R M
authors.initials: RM
authors.lastname: Ramírez-Duenãs
authors.forename: A
authors.initials: A
authors.lastname: Hernandez-Córdova
authors.forename: M X
authors.initials: MX
authors.lastname: Ruiz
authors.forename: W E
authors.initials: WE
authors.lastname: Bitar-Alatorre
authors.forename: M L
authors.initials: ML
authors.lastname: Ramírez-Dueñas
mesh_terms: D000328:Adult; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D003638:Deafness / Q000235:genetics*; D003937:Diagnosis, Differential; D005190:Family; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation; D011859:Radiography; D013577:Syndrome