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.
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|Titolo:||Syndromes associated with simple calvarial and complex craniofacial anomalies.|
|Data di pubblicazione:||1991|
|Citazione:||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.|
|Appartiene alla tipologia:||01a Articolo in rivista|