Pattern of central nervous system anomalies in a population with a high rate of consanguineous marriages.
Nine thousand six hundred and ten births were prospectively studied in the three major hospitals in Al-Ain, United Arab Emirates (UAE) between October 1995 and January 1997.
Babies suspected of, or diagnosed, as having central nervous system (CNS) abnormalities were evaluated by a neonatologist, a clinical geneticist and a pediatric neurologist.
Brain computerized tomography/magnetic resonance imaging (CT MRI) was performed on all babies suspected of having CNS abnormalities.
In addition, metabolic screening and chromosome analysis were also performed when indicated.
Of the 225 babies with congenital anomalies identified. 31 had CNS abnormalities (3.2/1000).
Syndromic abnormalities of the CNS were present in 13 cases (42%), chromosomal abnormalities in one case (3.2%) and the rest included : neural tube defect (NTD) in II cases (36%), holoprosencephaly in two cases (6.4%) and hydrocephalus in four cases (12.9%). Detailed analysis of the syndromic types revealed that out of the 13 cases, 12 were inherited as autosomal recessive (AR) and in one case the inheritance was undetermined.
Consanguinity with high level of inbreeding was present in 12 cases and the majority of the syndromes identified were extremely rare.
The study indicates that CNS anomalies are fairly common in the UAE, particularly, the recessive syndromic types.
Careful and detailed analysis of such anomalies is required so that accurate genetic advice can be given.
Mots-clés Pascal : Malformation, Système nerveux central, Nouveau né, Homme, Consanguinité, Emirats Arabes Unis, Asie, Epidémiologie, Etude familiale, Système nerveux central pathologie, Système nerveux pathologie, Maladie congénitale
Mots-clés Pascal anglais : Malformation, Central nervous system, Newborn, Human, Consanguinity, United Emirates, Asia, Epidemiology, Family study, Central nervous system disease, Nervous system diseases, Congenital disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0185168
Code Inist : 002B17D. Création : 16/11/1999.