Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.

Abstract excerpt

Craniosynostosis, caused by early fusion of one or more cranial sutures, can affect the coronal or lambdoid sutures, or include premature fusion of the sagittal (scaphocephaly) or metopic suture (trigonocephaly). Often occurring as isolated finding, their co-existence in a craniosynostosis syndrome is infrequent. We describe a four-generation family with variable expression of a craniosynostosis phenotype with...

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