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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 J+Korean+Neurosurg+Soc
2016 ; 59
(3
): 187-91
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Genetic Syndromes Associated with Craniosynostosis
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Ko JM
J Korean Neurosurg Soc
2016[May]; 59
(3
): 187-91
PMID27226847
show ga
Craniosynostosis is defined as the premature fusion of one or more of the cranial
sutures. It leads not only to secondary distortion of skull shape but to various
complications including neurologic, ophthalmic and respiratory dysfunction.
Craniosynostosis is very heterogeneous in terms of its causes, presentation, and
management. Both environmental factors and genetic factors are associated with
development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more
than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is
more likely to involve multiple sutures or bilateral coronal sutures. FGFR2,
FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic
syndromes associated with craniosynostosis. Although most of syndromic
craniosynostosis show autosomal dominant inheritance, approximately half of
patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome,
and Antley-Bixler syndrome are related to mutations in FGFR family (especially in
FGFR2), and mutations in FGFRs can be overlapped between different syndromes.
Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are
representative disorders showing isolated coronal suture involvement. Compared to
the other types of craniosynostosis, single gene mutations can be more frequently
detected, in one-third of coronal synostosis patients. Molecular diagnosis can be
helpful to provide adequate genetic counseling and guidance for patients with
syndromic craniosynostosis.
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