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KMID : 1101620180290030128
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Perinatology
2018 Volume.29 No. 3 p.128 ~ p.132
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Pfeiffer Syndrome Type 2 with Sporadic Fibroblast Growth Factor Receptor 2 Mutation and Coccygeal Anomaly
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Lee Jin-Sun
Choi Jin-Hyuk
Lee Yong-Wook
Gang Mi-Hyeon
You Sun-Kyoung
Shin Hyun-Dea
Chang Mea-Young
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Abstract
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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.
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KEYWORD
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Pfeiffer syndrome, Fibroblast growth factor receptor 2, Coccygeal anomaly
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