Syndromes associated with simple calvarial and complex craniofacial anomalies.
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.
Iannetti
P
P
Pediatric Department, Università La Sapienza, Rome, Italy.
Chessa
L
L
Iannetti
G
G
D001927:Brain Diseases / Q000196:embryology* / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome