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

被引:2
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
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
收藏
页码:412 / 417
页数:6
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