Variable Expressivity and Clinical Heterogeneity Can Complicate the Diagnosis and Management of Pfeiffer Syndrome
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine,Otorhinolaryngology,Surgery
Reference6 articles.
1. Mendelian Inheritance in Man and Its Online Version, OMIM
2. Pfeiffer syndrome
3. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
4. Craniosynostosis
5. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
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1. Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency;Clinical Case Reports;2021-10
2. Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis;Plastic and Reconstructive Surgery - Global Open;2019-12
3. A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality;Genetics in Medicine;2019-02
4. A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome;American Journal of Medical Genetics Part A;2017-08-16
5. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay;European Journal of Human Genetics;2017-05-17
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