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- W2896475469 abstract "Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and anomalies of the face and extremities. A female newborn showing ocular proptosis and typical cloverleaf skull was considered as having Pfeiffer syndrome type 2. She also had coccygeal anomaly resembling a human tail. However, the accompanying vertebral malformations are rare in Pfeiffer syndrome. Molecular genetic testing confirmed sporadic fibroblast growth factor receptor 2 mutation in this patient. Thus, molecular genetic testing should be considered for any type of Pfeiffer syndrome to obtain definite diagnosis." @default.
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- W2896475469 date "2018-01-01" @default.
- W2896475469 modified "2023-09-27" @default.
- W2896475469 title "Pfeiffer Syndrome Type 2 with Sporadic Fibroblast Growth Factor Receptor 2 Mutation and Coccygeal Anomaly" @default.
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- W2896475469 doi "https://doi.org/10.14734/pn.2018.29.3.128" @default.
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