Peña-Padilla Christian, Viramontes-Aguilar Lorena, Tavares-Macías Gerónimo, Bobadilla-Morales Lucina, L Cunningham Michael, Park Sarah, Zapata-Aldana Eugenio, Corona-Rivera Jorge Román
Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara , Guadalajara , Jalisco , Mexico.
Service of Pathology, Dr. Juan I. Menchaca Civil Hospital of Guadalajara , Guadalajara , Jalisco , Mexico.
Fetal Pediatr Pathol. 2019 Oct;38(5):412-417. doi: 10.1080/15513815.2019.1603256. Epub 2019 Apr 19.
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. we report the second case of PS type 3 in a female neonate with "prune belly" anomaly and prenatal exposure to Parvovirus B19. 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.
法伊弗综合征（PS）是一种常染色体显性疾病，其特征为颅缝早闭、拇指宽大及拇趾轴前偏斜。根据严重程度可分为三型。1型：轻度至中度严重程度；2型：伴有三叶形头畸形的严重表现；3型：伴有明显眼球突出的严重颅缝早闭。在两名无血缘关系的患者（一名2型PS患者和一名3型PS患者）中，曾报道过2型和3型法伊弗综合征（PS）与“梨状腹”异常相关。我们报告了第二例患有“梨状腹”异常且产前暴露于细小病毒B19的女性新生儿3型PS病例。我们建议，“梨状腹”异常及其他腹壁缺陷，如脐膨出和瘢痕型缺陷，可能应纳入2型和3型PS的特征之中。
