The fifth female patient with Myhre syndrome: further delineation.
We report the fifth female patient with Myhre syndrome (MS) and review the literature. She is a 13-year-old Mexican girl whose phenotype fulfills all the clinical and radiological criteria reported in MS such as typical facies, short stature, limited joint mobility, and short hands and feet. The physical habitus of MS is described and a square body shape is clearly distinguished in all cases. As the typical muscular build is present mainly in male patients, the MS muscular appearance may be hormonally influenced.
Becerra-Solano
Luis E
LE
Genetics Division, Biomedical Research Center of the West-Mexican Social Security Institute Doctor of Human Genetics Program, University Center for Health Sciences Neurosciences Institute, University Center for Biological and Agricultural Sciences, University of Guadalajara, Guadalajara, Mexico Radiological Studies Private Unit Drs. Bañuelos, Guadalajara, Mexico University of East Nucleus Bolivar, Genetics Unit, Ciudad Bolivar, Bolivar, Venezuela.
Díaz-Rodriguez
Manuel
M
Nastasi-Catanese
Jose A
JA
Toscano-Flores
Jose J
JJ
Bañuelos-Robles
Oscar
O
Figuera
Luis E
LE
Matute
Esmeralda
E
de Lourdes Ramírez-Dueñas
Maria
M
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D000293:Adolescent; D049628:Body Size; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000473:pathology*; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D011629:Puberty, Precocious / Q000175:diagnosis; D011859:Radiography; D013577:Syndrome