Memorias del Instituto de Investigaciones en Ciencias de la Salud
versão On-line ISSN 1812-9528
ABSTRACT Craniosynostosis is a disorder of the skull shape caused by a premature fusion of the sutures. Together with other anomalies, it constitutes a syndrome. Craniosynostosis is a pathology of heterogenic etiology. There are more than 90 syndromes of craniosynostosis known, excluding the occasional and secondary craniosynostosis. The diagnosis is made clinically and radiologically and the prevalence of all types is 343 per million of newborns. The most frequent synostosis is the fusion of the sagital suture followed by the fusion of the coronal. The premature fusion of the metopic and lambdoid sutures is less frequent. Cases of isolated craniosynostosis are sporadic. The syndromatic craniosynostosis may be fresh mutations or of autosomal dominant inheritance. In the group of syndromatic craniosynostosis, the more frequently associated anomalies are those of the limbs though cardiac malformations, genitourinary anomalies and ear defects are also seen. In some cases, there is also mental retardation. Craniosynostosis in the offspring is related to father's old age. In this paper, we present six cases of craniosynostosis: two boys with Apert syndrome, a boy and a girl with Pfeiffer syndromesl (one of them with cloverleaf skull), one boy with Jackson Weiss syndrome and one girl with isolated craniosynostosis (cloverleaf skull). We will make a revision of the more frequent syndromes of craniosynostosis emphazising the syndromes of our current cases. We report these cases because of the importance of a precise diagnosis, since patient handling and treatment depend on it. It is also important in order to provide proper genetic counseling about the possible complications such as mental retardation, cardiac malformations and others (depending on the syndrome) and to inform the risk of recurrence in the family.
Palavras-chave : Craniosynostosis; Suture; Mutation; Syndrom.