Article
The Myhre syndrome: report of two cases.
Clinical genetics - 1 Oct 1993
García-Cruz D, Figuera L E, Feria-Velazco A, Sánchez-Corona J, García-Cruz M O, Ramírez-Duenãs R M, Hernandez-Córdova A, Ruiz M X, Bitar-Alatorre W E, Ramírez-Dueñas M L
Abstract excerpt
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 jo...
Topics
- Adult
- Body Height
- Bone and Bones
- Child
- Deafness
- Diagnosis, Differential
- Family
- Humans
- Intellectual Disability
- Male
- Muscular Dystrophies
- Mutation
- Radiography
- Syndrome
