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Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.
Fetal Pediatr Pathol. 2019 Oct; 38(5):412-417.FP

Abstract

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.

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Authors+Show Affiliations

Peña-Padilla C
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.
Viramontes-Aguilar L
Service of Pathology, Dr. Juan I. Menchaca Civil Hospital of Guadalajara , Guadalajara , Jalisco , Mexico.
Tavares-Macías G
Service of Pathology, Dr. Juan I. Menchaca Civil Hospital of Guadalajara , Guadalajara , Jalisco , Mexico.
Bobadilla-Morales L
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. Dr. Enrique Corona-Rivera Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara , Guadalajara , Jalisco , Mexico.
L Cunningham M
Craniofacial Center, Seattle Children's Hospital , Washington , USA.
Park S
Craniofacial Center, Seattle Children's Hospital , Washington , USA.
Zapata-Aldana E
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. Department of Pediatrics & Child Health, Rady Faculty of Health Sciences, University of Manitoba , Winnipeg , MB , Canada.
Corona-Rivera JR
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. Dr. Enrique Corona-Rivera Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara , Guadalajara , Jalisco , Mexico.

MeSH

AcrocephalosyndactyliaFatal OutcomeFemaleHumansInfant, NewbornPrune Belly SyndromeSkull

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

31002276

Citation

Peña-Padilla, Christian, et al. "Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review." Fetal and Pediatric Pathology, vol. 38, no. 5, 2019, pp. 412-417.
Peña-Padilla C, Viramontes-Aguilar L, Tavares-Macías G, et al. Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review. Fetal Pediatr Pathol. 2019;38(5):412-417.
Peña-Padilla, C., Viramontes-Aguilar, L., Tavares-Macías, G., Bobadilla-Morales, L., L Cunningham, M., Park, S., Zapata-Aldana, E., & Corona-Rivera, J. R. (2019). Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review. Fetal and Pediatric Pathology, 38(5), 412-417. https://doi.org/10.1080/15513815.2019.1603256
Peña-Padilla C, et al. Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review. Fetal Pediatr Pathol. 2019;38(5):412-417. PubMed PMID: 31002276.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review. AU - Peña-Padilla,Christian, AU - Viramontes-Aguilar,Lorena, AU - Tavares-Macías,Gerónimo, AU - Bobadilla-Morales,Lucina, AU - L Cunningham,Michael, AU - Park,Sarah, AU - Zapata-Aldana,Eugenio, AU - Corona-Rivera,Jorge Román, Y1 - 2019/04/19/ PY - 2019/4/20/pubmed PY - 2020/2/12/medline PY - 2019/4/20/entrez KW - KW - anomaly KW - Ascites KW - Omphalocele KW - Parvovirus B19 KW - Pfeiffer syndrome SP - 412 EP - 417 JF - Fetal and pediatric pathology JO - Fetal Pediatr Pathol VL - 38 IS - 5 N2 - 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. SN - 1551-3823 UR - https://www.unboundmedicine.com/medline/citation/31002276/Pfeiffer_Syndrome_Type_3_and_Prune_Belly_Anomaly_in_a_Female:_Case_Report_and_Review_ DB - PRIME DP - Unbound Medicine ER -