Maternal and neonatal Pfeiffer syndrome. Galindo, J., Garcia, L., López, R., Correa, M., Macías, K., Regalado, M., Delgado, M., & Morocho, M. Archivos Venezolanos de Farmacologia y Terapeutica, 36(6):158–161, 2017. Publisher: Sociedad Venezolana de Farmacologia y de Farmacologia Clinica y Terapeutica![Maternal and neonatal Pfeiffer syndrome [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper abstract bibtex Background: Pfeiffer’s syndrome is an autosomal dominant congenital disorder that affects approximately 1 in 100,000 live births. It was described as an acrocephalon-syndactyly: bicoronal craniosynostosis, facial hypoplasia, thumbs and first wide arches and variable partial cutaneous syndactyly, with a wide range of severity. Case report: This is a case of a patient with a diagnosis of Pfeiffer’s syndrome, attended in the Maternal and Child Health Area of the Hospital “Misereor”, whose pregnancy ended with cephalo-vaginal delivery, obtaining a female newborn with phenotypic characteristics of Pfeiffer’s syndrome. The diagnosis was initially intra-uterus established in the prenatal control and later by the clinical method and imaging studies, currently both mother and neonate remain in good condition. Conclusion: The diagnosis is based on the presence of characteristic clinical findings including craniosynostosis, facial features, and variable malformations of the hands and feet. In some cases radiological examinations may be necessary. As a rare disease worldwide, this case serves as a reference to improve our knowledge of ways to diagnose and manage both maternal and newborn. © 2017, Sociedad Venezolana de Farmacologia y de Farmacologia Clinica y Terapeutica. All rights reserved.
@article{galindo_maternal_2017,
title = {Maternal and neonatal {Pfeiffer} syndrome},
volume = {36},
issn = {07980264 (ISSN)},
shorttitle = {Síndrome de {Pfeiffer} materno y neonatal},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85047542877&partnerID=40&md5=ff2e09ec7a45c387260a2eecdf18f86b},
abstract = {Background: Pfeiffer’s syndrome is an autosomal dominant congenital disorder that affects approximately 1 in 100,000 live births. It was described as an acrocephalon-syndactyly: bicoronal craniosynostosis, facial hypoplasia, thumbs and first wide arches and variable partial cutaneous syndactyly, with a wide range of severity. Case report: This is a case of a patient with a diagnosis of Pfeiffer’s syndrome, attended in the Maternal and Child Health Area of the Hospital “Misereor”, whose pregnancy ended with cephalo-vaginal delivery, obtaining a female newborn with phenotypic characteristics of Pfeiffer’s syndrome. The diagnosis was initially intra-uterus established in the prenatal control and later by the clinical method and imaging studies, currently both mother and neonate remain in good condition. Conclusion: The diagnosis is based on the presence of characteristic clinical findings including craniosynostosis, facial features, and variable malformations of the hands and feet. In some cases radiological examinations may be necessary. As a rare disease worldwide, this case serves as a reference to improve our knowledge of ways to diagnose and manage both maternal and newborn. © 2017, Sociedad Venezolana de Farmacologia y de Farmacologia Clinica y Terapeutica. All rights reserved.},
language = {Spanish},
number = {6},
journal = {Archivos Venezolanos de Farmacologia y Terapeutica},
author = {Galindo, J.L.Q. and Garcia, L.M.G. and López, R.A.C. and Correa, M.E.T. and Macías, K.E.T. and Regalado, M.G.A. and Delgado, M.A.M. and Morocho, M.C.U.},
year = {2017},
note = {Publisher: Sociedad Venezolana de Farmacologia y de Farmacologia Clinica y Terapeutica},
keywords = {Article, Craniosynostosis, Pfeiffer syndrome, Pregnancy, Syndactyly, acrocephalosyndactyly, case report, child health, clinical article, craniofacial synostosis, female, foot malformation, hand malformation, human, maternal disease, newborn, phenotype, pregnancy, syndactyly, vaginal delivery},
pages = {158--161},
}
Downloads: 0
{"_id":"owGv55LbrioSibsMz","bibbaseid":"galindo-garcia-lpez-correa-macas-regalado-delgado-morocho-maternalandneonatalpfeiffersyndrome-2017","author_short":["Galindo, J.","Garcia, L.","López, R.","Correa, M.","Macías, K.","Regalado, M.","Delgado, M.","Morocho, M."],"bibdata":{"bibtype":"article","type":"article","title":"Maternal and neonatal Pfeiffer syndrome","volume":"36","issn":"07980264 (ISSN)","shorttitle":"Síndrome de Pfeiffer materno y neonatal","url":"https://www.scopus.com/inward/record.uri?eid=2-s2.0-85047542877&partnerID=40&md5=ff2e09ec7a45c387260a2eecdf18f86b","abstract":"Background: Pfeiffer’s syndrome is an autosomal dominant congenital disorder that affects approximately 1 in 100,000 live births. It was described as an acrocephalon-syndactyly: bicoronal craniosynostosis, facial hypoplasia, thumbs and first wide arches and variable partial cutaneous syndactyly, with a wide range of severity. Case report: This is a case of a patient with a diagnosis of Pfeiffer’s syndrome, attended in the Maternal and Child Health Area of the Hospital “Misereor”, whose pregnancy ended with cephalo-vaginal delivery, obtaining a female newborn with phenotypic characteristics of Pfeiffer’s syndrome. The diagnosis was initially intra-uterus established in the prenatal control and later by the clinical method and imaging studies, currently both mother and neonate remain in good condition. Conclusion: The diagnosis is based on the presence of characteristic clinical findings including craniosynostosis, facial features, and variable malformations of the hands and feet. In some cases radiological examinations may be necessary. As a rare disease worldwide, this case serves as a reference to improve our knowledge of ways to diagnose and manage both maternal and newborn. © 2017, Sociedad Venezolana de Farmacologia y de Farmacologia Clinica y Terapeutica. All rights reserved.","language":"Spanish","number":"6","journal":"Archivos Venezolanos de Farmacologia y Terapeutica","author":[{"propositions":[],"lastnames":["Galindo"],"firstnames":["J.L.Q."],"suffixes":[]},{"propositions":[],"lastnames":["Garcia"],"firstnames":["L.M.G."],"suffixes":[]},{"propositions":[],"lastnames":["López"],"firstnames":["R.A.C."],"suffixes":[]},{"propositions":[],"lastnames":["Correa"],"firstnames":["M.E.T."],"suffixes":[]},{"propositions":[],"lastnames":["Macías"],"firstnames":["K.E.T."],"suffixes":[]},{"propositions":[],"lastnames":["Regalado"],"firstnames":["M.G.A."],"suffixes":[]},{"propositions":[],"lastnames":["Delgado"],"firstnames":["M.A.M."],"suffixes":[]},{"propositions":[],"lastnames":["Morocho"],"firstnames":["M.C.U."],"suffixes":[]}],"year":"2017","note":"Publisher: Sociedad Venezolana de Farmacologia y de Farmacologia Clinica y Terapeutica","keywords":"Article, Craniosynostosis, Pfeiffer syndrome, Pregnancy, Syndactyly, acrocephalosyndactyly, case report, child health, clinical article, craniofacial synostosis, female, foot malformation, hand malformation, human, maternal disease, newborn, phenotype, pregnancy, syndactyly, vaginal delivery","pages":"158–161","bibtex":"@article{galindo_maternal_2017,\n\ttitle = {Maternal and neonatal {Pfeiffer} syndrome},\n\tvolume = {36},\n\tissn = {07980264 (ISSN)},\n\tshorttitle = {Síndrome de {Pfeiffer} materno y neonatal},\n\turl = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85047542877&partnerID=40&md5=ff2e09ec7a45c387260a2eecdf18f86b},\n\tabstract = {Background: Pfeiffer’s syndrome is an autosomal dominant congenital disorder that affects approximately 1 in 100,000 live births. It was described as an acrocephalon-syndactyly: bicoronal craniosynostosis, facial hypoplasia, thumbs and first wide arches and variable partial cutaneous syndactyly, with a wide range of severity. Case report: This is a case of a patient with a diagnosis of Pfeiffer’s syndrome, attended in the Maternal and Child Health Area of the Hospital “Misereor”, whose pregnancy ended with cephalo-vaginal delivery, obtaining a female newborn with phenotypic characteristics of Pfeiffer’s syndrome. The diagnosis was initially intra-uterus established in the prenatal control and later by the clinical method and imaging studies, currently both mother and neonate remain in good condition. Conclusion: The diagnosis is based on the presence of characteristic clinical findings including craniosynostosis, facial features, and variable malformations of the hands and feet. In some cases radiological examinations may be necessary. As a rare disease worldwide, this case serves as a reference to improve our knowledge of ways to diagnose and manage both maternal and newborn. © 2017, Sociedad Venezolana de Farmacologia y de Farmacologia Clinica y Terapeutica. All rights reserved.},\n\tlanguage = {Spanish},\n\tnumber = {6},\n\tjournal = {Archivos Venezolanos de Farmacologia y Terapeutica},\n\tauthor = {Galindo, J.L.Q. and Garcia, L.M.G. and López, R.A.C. and Correa, M.E.T. and Macías, K.E.T. and Regalado, M.G.A. and Delgado, M.A.M. and Morocho, M.C.U.},\n\tyear = {2017},\n\tnote = {Publisher: Sociedad Venezolana de Farmacologia y de Farmacologia Clinica y Terapeutica},\n\tkeywords = {Article, Craniosynostosis, Pfeiffer syndrome, Pregnancy, Syndactyly, acrocephalosyndactyly, case report, child health, clinical article, craniofacial synostosis, female, foot malformation, hand malformation, human, maternal disease, newborn, phenotype, pregnancy, syndactyly, vaginal delivery},\n\tpages = {158--161},\n}\n\n\n\n","author_short":["Galindo, J.","Garcia, L.","López, R.","Correa, M.","Macías, K.","Regalado, M.","Delgado, M.","Morocho, M."],"key":"galindo_maternal_2017","id":"galindo_maternal_2017","bibbaseid":"galindo-garcia-lpez-correa-macas-regalado-delgado-morocho-maternalandneonatalpfeiffersyndrome-2017","role":"author","urls":{"Paper":"https://www.scopus.com/inward/record.uri?eid=2-s2.0-85047542877&partnerID=40&md5=ff2e09ec7a45c387260a2eecdf18f86b"},"keyword":["Article","Craniosynostosis","Pfeiffer syndrome","Pregnancy","Syndactyly","acrocephalosyndactyly","case report","child health","clinical article","craniofacial synostosis","female","foot malformation","hand malformation","human","maternal disease","newborn","phenotype","pregnancy","syndactyly","vaginal delivery"],"metadata":{"authorlinks":{}},"downloads":0,"html":""},"bibtype":"article","biburl":"https://bibbase.org/zotero/santiagovasco","dataSources":["n5uPHsZiAv5z5yaHr"],"keywords":["article","craniosynostosis","pfeiffer syndrome","pregnancy","syndactyly","acrocephalosyndactyly","case report","child health","clinical article","craniofacial synostosis","female","foot malformation","hand malformation","human","maternal disease","newborn","phenotype","pregnancy","syndactyly","vaginal delivery"],"search_terms":["maternal","neonatal","pfeiffer","syndrome","galindo","garcia","lópez","correa","macías","regalado","delgado","morocho"],"title":"Maternal and neonatal Pfeiffer syndrome","year":2017}