The fifth female patient with Myhre syndrome:: further delineation

被引：15

作者：

Becerra-Solano, Luis E. ^{[1
,2
]}

Diaz-Rodriguez, Manuel ^{[1
,2
]}

Nastasi-Catanese, Jose A. ^{[1
,2
,5
]}

Toscano-Flores, Jose J. ^{[1
,2
]}

Banuelos-Robles, Oscar ^{[4
]}

Figuera, Luis E. ^{[1
,2
]}

Matute, Esmeralda ^{[3
]}

de Lourdes Ramirez-Duenas, Maria ^{[1
,2
]}

机构：

[1] W Mexican Social Secur Inst, Biomed Res Ctr, Div Genet, Guadalajara, Jalisco, Mexico

[2] Univ Ctr Hlth Sci, Human Genet Program, Guadalajara, Jalisco, Mexico

[3] Univ Guadalajara, Univ Ctr Biol & Agr Sci, Inst Neurosci, Guadalajara 44430, Jalisco, Mexico

[4] Radiol Studies Private Unit Drs Banuelos, Guadalajara, Jalisco, Mexico

[5] Univ E Nucleus Bolivar, Genet Unit, Bolivar, Venezuela

来源：

CLINICAL DYSMORPHOLOGY | 2008年 / 17卷 / 02期

关键词：

blepharophimosis; cleft palate; Myhre syndrome; precocious puberty;

D O I：

10.1097/MCD.0b013e3282f52828

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：

We report the fifth female patient with Myhre syndrome (MS) and review the literature. She is a 113-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.

引用

页码：113 / 117

页数：5

共 11 条

[1]

ACHEMBACH TM, 1991, CHILD BEHAV CHECKLIS

[2]

Myhre syndrome:: new reports, review, and differential diagnosis [J].

Burglen, L ;

Héron, D ;

Moerman, A ;

Dieux-Coeslier, A ;

Bourguignon, JP ;

Bachy, A ;

Carel, JC ;

Cormier-Daire, V ;

Manouvrier, S ;

Verloes, A .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (07) :546-551

[3]

Myhre syndrome:: first female case [J].

Dávalos, NO ;

García-Ortiz, JE ;

García-Cruz, D ;

Feria-Velasco, A ;

Sánchez-Corona, J .

CLINICAL DYSMORPHOLOGY, 2003, 12 (02) :119-121

[4]

GARCIACRUZ D, 1993, CLIN GENET, V44, P203

[5]

*J HOPK U MCKUS I, 2007, OMIM ONL MEND INF MA

[6]

Second female case of Myhre syndrome [J].

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 .

CLINICAL DYSMORPHOLOGY, 2004, 13 (02) :91-94

[7]

MATUTE E, 2007, EVALUACIONNEUROPSICO

[8]

MYHRE SA, 1981, CLIN GENET, V20, P1

[9]

Myhre's syndrome in a girl with normal intelligence [J].

Rulli, I ;

Ferrero, GB ;

Belligni, E ;

Delmonaco, AG ;

Defilippi, C ;

Silengo, M .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 134A (01) :100-102

[10]

Myhre syndrome in a female with previously undescribed symptoms: Further delineation of the phenotype [J].

van Steensel, MAM ;

Vreeburg, M ;

Steijlen, PM ;

de Die-Smulders, C .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 139A (02) :127-130

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