Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review

被引：3

作者：

Pena-Padilla, Christian ^{[1
,2
]}

Viramontes-Aguilar, Lorena ^{[3
]}

Tavares-Macias, Geronimo ^{[3
]}

Bobadilla-Morales, Lucina ^{[1
,2
,4
]}

Cunningham, Michael L. ^{[5
]}

Park, Sarah ^{[5
]}

Zapata-Aldana, Eugenio ^{[1
,2
,6
]}

Roman Corona-Rivera, Jorge ^{[1
,2
,4
]}

机构：

[1] Dr Juan I Menchaca Civil Hosp Guadalajara, Serv Genet, Ctr Registry & Res Congenital Anomalies CRIAC, Guadalajara, Jalisco, Mexico

[2] Dr Juan I Menchaca Civil Hosp Guadalajara, Cytogenet Unit, Pediat Div, Guadalajara, Jalisco, Mexico

[3] Dr Juan I Menchaca Civil Hosp Guadalajara, Serv Pathol, Guadalajara, Jalisco, Mexico

[4] Univ Guadalajara, Dr Enrique Corona Rivera Inst Human Genet, Dept Mol Biol & Genom, Hlth Sci Univ Ctr, Guadalajara, Jalisco, Mexico

[5] Seattle Childrens Hosp, Craniofacial Ctr, Washington, DC USA

[6] Univ Manitoba, Dept Pediat & Child Hlth, Rady Fac Hlth Sci, Winnipeg, MB, Canada

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2019年 / 38卷 / 05期

关键词：

Pfeiffer syndrome; Prune belly anomaly; Omphalocele; FGFR2; Ascites; Parvovirus B19; MUTATIONS;

D O I：

10.1080/15513815.2019.1603256

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is classified in three types depending on the severity. Type 1: Mild to moderate severity, Type 2: Severe presentation with cloverleaf skull, and Type 3: Severe craniosynostosis with prominent ocular proptosis. Association of Pfeiffer syndrome (PS) types 2 and 3 with "prune belly" anomaly has been reported in two non-related patients, one PS type 2 and one PS type 3. Case Report: we report the second case of PS type 3 in a female neonate with "prune belly" anomaly and prenatal exposure to Parvovirus B19. Conclusions: We suggest that the "prune belly" anomaly and others abdominal wall defects as omphalocele and scar-type defects may be included as a feature in PS type 2 and 3.

引用

页码：412 / 417

页数：6

共 13 条

[1] CRANIOFACIAL, LIMB, AND ABDOMINAL ANOMALIES IN A DISTINCT SYNDROME - RELATION TO THE SPECTRUM OF PFEIFFER SYNDROME TYPE-3 [J].