Trichorhinophalangeal syndrome type I associated with imperforate hymen

被引：1

作者：

Minemura, Risa ^{[1
,2
]}

Sugitate, Ryo ^{[1
]}

Shimizu, Mariko ^{[1
]}

Murata, Tomomi ^{[3
]}

Ishige, Takashi ^{[2
]}

Takizawa, Takumi ^{[2
]}

机构：

[1] Maebashi Red Cross Hosp, Dept Pediat, Maebashi, Japan

[2] Gunma Univ, Grad Sch Med, Dept Pediat, 3-39-22 Showa Machi, Maebashi, Gunma 3718511, Japan

[3] Maebashi Red Cross Hosp, Dept Obstet & Gynecol, Maebashi, Japan

来源：

PEDIATRICS INTERNATIONAL | 2023年 / 65卷 / 01期

关键词：

genital malformation; imperforate hymen; trichorhinophalangeal syndrome;

D O I：

10.1111/ped.15679

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页数：3

共 5 条

[1]

Basaran Mustafa, 2009, J Pediatr Adolesc Gynecol, V22, pe61, DOI 10.1016/j.jpag.2008.03.009

[2] A novel mutation in TRPS1 in a patient with tricho-rhino-phalangeal syndrome type 1, accompanied by vesicoureteral reflux [J].

Morimoto, Naoko ;

Shimizu, Akira ;

Ohnishi, Kazunori ;

Shimomura, Yutaka .

EUROPEAN JOURNAL OF DERMATOLOGY, 2017, 27 (06) :666-667

[3] Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis [J].

Plaza-Benhumea, L. ;

Valdes-Miranda, J. M. ;

Toral-Lopez, J. ;

Perez-Cabrera, A. ;

Cuevas-Covarrubias, S. .

BRITISH JOURNAL OF DERMATOLOGY, 2014, 171 (06) :1581-1583

[4] Dominant transmission of imperforate hymen [J].

Stelling, JR ;

Gray, MR ;

Davis, AJ ;

Cowan, JM ;

Reindollar, RH .

FERTILITY AND STERILITY, 2000, 74 (06) :1241-1244

[5] An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature [J].

Trippella, Giulia ;

Lionetti, Paolo ;

Naldini, Sara ;

Peluso, Francesca ;

Della Monica, Matteo ;

Stagi, Stefano .

ITALIAN JOURNAL OF PEDIATRICS, 2018, 44

← 1 →