Work

Pfeiffer Syndrome Type 2 with Sporadic Fibroblast Growth Factor Receptor 2 Mutation and Coccygeal Anomaly

Year: 2018

Type: article

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.

Source: Perinatology

DOI: 10.14734/pn.2018.29.3.128