Perinatology.  2018 Sep;29(3):128-132. 10.14734/PN.2018.29.3.128.

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

• Lee JS
• Choi JH
• Lee YW
• Gang MH
• You SK
• Shin HD
• Chang MY

• KMID: 2421578
• DOI: http://doi.org/10.14734/PN.2018.29.3.128

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.

Keyword

Pfeiffer syndrome; Fibroblast growth factor receptor 2; Coccygeal anomaly

MeSH Terms

Acrocephalosyndactylia*
Diagnosis
Exophthalmos
Extremities
Female
Fibroblast Growth Factors*
Fibroblasts*
Humans
Infant, Newborn
Molecular Biology
Receptor, Fibroblast Growth Factor, Type 2*
Receptors, Fibroblast Growth Factor*
Skull
Tail
Fibroblast Growth Factors
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Fibroblast Growth Factor

Figure

• 

  Fig. 1 Photographs of the patient at birth. (A, B) Cloverleaf-shaped head, proptosis, hypertelorim, low-set ear, maxillary hypoplasia, and mandibular prognathism. (C) Bilateral elbow ankyloses make both arms bend into radial side with limited extension of elbows less than 90 degrees. (D) Coccygeal skin defect with human tail-like appendage.

• 

  Fig. 2 Plain radiographs of the skull and extremities. (A) Cloverleaf-shaped skull. (B) Fusion of humeroulnar, humeroradial, and radioulnar joints (black arrow). (C) The sacrococcygeal bone abruptly directed posteriorly of a lateral spine view (white arrow).

• 

  Fig. 3 Brain and spine magnetic resonance imaging. (A) The cervico-lumbar region showed kyphosis instead of lordosis, conus medllaris at L2 vertebral body (black arrow-L2 vertebral body). Posteriorly projecting coccygeal tip (white arrow). (B) Brachycephaly, hydrocephalus in the 3rd ventricle. (C) Tonsillar herniation and crowd foramen magnum (black arrow).

• 

  Fig. 4 A heterozygous mutation of c. 870G>C (p.Trp 290 Cys) in the FGFR 2 gene (arrow). Trp, trypsin; Cys, cysteine; FGFR, fibroblast growth factor receptor.

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