Central nervous system (CNS) development is a complex process of predetermined events that must occur in an ordered sequence to ensure normal ontogenesis. Various critical steps take place in a relatively short time (from the first few days to the first months of gestation). Both genetic and environmental insults may produce morphological defects. Early defects often result in nonviable embryos; later, complex craniofacial anomalies, mainly associated with brain damage, may be observed. The pathogenesis of congenital malformations is heterogeneous; sporadic cases are reported as well as recessive or dominant inheritance and chromosomal aberrations. Some of these syndromes have been identified as contiguous gene syndromes; the role of critical chromosomal regions and homeobox genes is discussed. Furthermore, these conditions present difficulties in regard to early diagnosis, surgical repair, and social impact.

Syndromes associated with simple calvarial and complex craniofacial anomalies / P., Iannetti; Chessa, Luciana; Iannetti, Giorgio. - In: CHILDS NERVOUS SYSTEM. - ISSN 0256-7040. - 7:2(1991), pp. 77-78.

Syndromes associated with simple calvarial and complex craniofacial anomalies.

CHESSA, Luciana;IANNETTI, Giorgio
1991

Abstract

Central nervous system (CNS) development is a complex process of predetermined events that must occur in an ordered sequence to ensure normal ontogenesis. Various critical steps take place in a relatively short time (from the first few days to the first months of gestation). Both genetic and environmental insults may produce morphological defects. Early defects often result in nonviable embryos; later, complex craniofacial anomalies, mainly associated with brain damage, may be observed. The pathogenesis of congenital malformations is heterogeneous; sporadic cases are reported as well as recessive or dominant inheritance and chromosomal aberrations. Some of these syndromes have been identified as contiguous gene syndromes; the role of critical chromosomal regions and homeobox genes is discussed. Furthermore, these conditions present difficulties in regard to early diagnosis, surgical repair, and social impact.
1991
01 Pubblicazione su rivista::01a Articolo in rivista
Syndromes associated with simple calvarial and complex craniofacial anomalies / P., Iannetti; Chessa, Luciana; Iannetti, Giorgio. - In: CHILDS NERVOUS SYSTEM. - ISSN 0256-7040. - 7:2(1991), pp. 77-78.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/39726
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