Second female case of Myhre syndrome

被引：22

作者：

Lopez-Cardona, MG

Garcia-Cruz, D

Garcia-Ortiz, JE

Davalos, NO

Feria-Velasco, A

Rodriguez-Rojas, LX

Garcia-Cruz, MO

Figuera-Villanueva, LE

Stephens, A

Larios-Arceo, F

Sanchez-Corona, J

机构：

[1] IMSS, CMNO, Hosp Especial, Ctr Invest Biomed Occidente,Div Med Mol, Guadalajara 44340, Jalisco, Mexico

[2] IMSS, CMNO, Hosp Especial, Ctr Invest Biomed Occidente,Div Genet, Guadalajara 44340, Jalisco, Mexico

[3] IMSS, CMNO, Hosp Especial, Serv Otorrinolaringol, Guadalajara 44340, Jalisco, Mexico

[4] IMSS, CMNO, Hosp Pediat, Guadalajara 44340, Jalisco, Mexico

[5] IMSS, Hosp Gen Reg 46, Guadalajara, Jalisco, Mexico

[6] Univ Guadalajara, CUCS, Doctorado Genet Humana, Guadalajara, Jalisco, Mexico

[7] CONACYT, CIATEJ, Guadalajara, Jalisco, Mexico

[8] Univ Autonoma Coahuila, Fac Med, Ctr Invest Biomed, Dept Inmunobiol Mol, Torreon, Coahuila, Mexico

来源：

CLINICAL DYSMORPHOLOGY | 2004年 / 13卷 / 02期

关键词：

Myhre syndrome; X-linked inheritance; facial dysmorphism; muscle hypertrophy;

D O I：

10.1097/00019605-200404000-00007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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.

引用

页码：91 / 94

页数：4

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