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Case Reports
. 2010 Jan;5(1):72-5.
doi: 10.4103/1817-1745.66685.

Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review

Rohit K Singh  1 , Jitendra Singh Verma, Arun K Srivastava, Awadhesh K Jaiswal, Sanjay Behari
Affiliations
Case Reports

Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review

Rohit K Singh et al. J Pediatr Neurosci. 2010 Jan.

Abstract

Mutations in different types of fibroblastic growth factor receptors (FGFRs) have been associated with a variety of phenotype abnormalities, the common ones being Apert, Crouzon and Pfeiffer syndromes. In this study, we present two representative cases having the Apert and Pfeiffer syndromes, respectively, and discuss their clinical presentation, sequel and surgical implications.

Keywords: Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; craniofacial; craniosynostosis; fibroblastic growth factor receptor.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Case 1:(A) Crouzon’s syndrome with bilateral proptosis, fusion and elevation of the coronal suture, open anterior fontanelle and brachycephaly. (B and C) “Mitten-type” syndactyly of the fingers and toes with a broad and short thumb are seen
Figure 2
Figure 2
Case 1: (A) X-ray of the hand showing bony and soft tissue syndactyly with a broad, radially deviated thumb. (B) X-ray of the foot showing soft tissue syndactyly
Figure 3
Figure 3
Case 1: (A and B) Three-dimensional reconstructed computed tomography scan showing a widely open anterior fontanelle with an open sagittal suture, bilateral coronal synostosis and a brachycephalic head
Figure 4
Figure 4
Case 1: (A and B) Magnetic resonance imaging revealed shallow orbits with bilateral proptosis, no Chiari malformation or hydrocephalus
Figure 5
Figure 5
Case 2: (A and B) Pfeiffer’s syndrome type II with a clover leaf head, with bulging anterior fontanelle and bilateral temporal bulge, bilateral proptosis midfacial hypoplasia and broad and short thumb
Figure 6
Figure 6
Case 2: (A and B) X-ray (anteroposterior and lateral images) of the skull showed a marked brachycephalic head with midfacial hypoplasia, silver-beaten appearance of the vault and elevation of sphenoid wings.
Figure 7
Figure 7
Case 2: (A–D) Computed tomography scan showing an asymmetrical ventricular dilatation (right lateral ventricle more than the left one). The fourth ventricle was not visualized. There is bilateral proptosis with shallow orbits
Figure 8
Figure 8
Case 2: (A–D) Magnetic resonance images showing gross ventriculomegaly with periventricular lucency and a chinked fourth ventricle. The sagittal image showed a steep angulation of the tent and straight sinus and a brachycephalic head
See this image and copyright information in PMC

References

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