Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis-Reference-Cited by-同舟云学术

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis

Published:2016-10-20 Issue:18 Volume:30 Page:2225-2231
ISSN:1476-7058
Container-title:The Journal of Maternal-Fetal & Neonatal Medicine
language:en
Short-container-title:The Journal of Maternal-Fetal & Neonatal Medicine

Author:

Giancotti Antonella¹,D’Ambrosio Valentina¹²,Marchionni Enrica²³,Squarcella Antonia¹,Aliberti Camilla¹,La Torre Renato¹,Manganaro Lucia⁴,Pizzuti Antonio²³,

Affiliation:

1. Department of Obstetrics, Gynecology and Urologic Sciences, “Sapienza” University of Rome, Policlinico Umberto I Hospital,

2. Department of Experimental Medicine, “Sapienza” University of Rome, Policlinico Umberto I Hospital, and

3. CSS-Mendel Laboratory, Rome, Italy

4. Department of Radiological, Oncological and Anatomopathological Sciences, “Sapienza” University of Rome, Policlinico Umberto I Hospital, Rome, Italy, and

Publisher

Informa UK Limited

Subject

Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/14767058.2016.1243099

Reference29 articles.

1. Dominant erbliche Akrocephalosyndaktylie

2. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis

3. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

4. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

5. Syndromes Involving Craniosynostosis and Midface Hypoplasia

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3. Three-dimensional computed tomography complements ultrasonography in prenatal diagnosis of Pfeiffer type 2 syndrome: a case report;Choonpa Igaku;2023

4. Multidisciplinary Rehabilitation Approach to the Maxillo-Facial Complications of Crouson’s Disease: Case Report and Review;The Open Dentistry Journal;2022-08-22

5. De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome;Case Reports in Genetics;2022-06-28