Second female case of Myhre syndrome.
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.
Lopez-Cardona
M G
MG
Divisiones de Medicina Molecular y Genetica, Centro de Investigacion Biomedica de Occidente Servicio de Otorrinolaringologia, Hospital de Especialidades Cirugia Pediatrica, Hospital de Pediatria, CMNO, IMSS Hospital General Regional 46, IMSS Doctorado de Genetica Humana, CUCS, Universidad de Guadalajara CIATEJ (CONACYT), Guadalajara, Jalisco Departamento de Inmunobiologia Molecular, Centro de Investigación Biomédica, Facultad de Medicina, Universidad Autonoma de Coahuila. Torreon, Coahuila, Mexico.
Garcia-Cruz
D
D
Garcia-Ortiz
J E
JE
Davalos
N O
NO
Feria-Velasco
A
A
Rodriguez-Rojas
L X
LX
Garcia-Cruz
M O
MO
Figuera-Villanueva
L E
LE
Stephens
A
A
Larios-Arceo
F
F
Sanchez-Corona
J
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D040181:Genetic Diseases, X-Linked; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D009135:Muscular Diseases / Q000473:pathology*; D011859:Radiography