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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Major congenital malformations presenting in the first 24 hours of life in 3865 consecutive births in south of Beirut. Incidence and pattern.

3865 consecutive newborns delivered between 2/1/91 and 7/31/93 were prospectively studied. All the neonates received a physical examination during the first 24 hours of life. Major congenital anomalies (MCA) were found in 64 newborns at incidence of 16.5/1000 births. 61 patients with full description included 40 with single and 21 with multiple MCA. Out of the latter 2 had syndromal (Osteogenesis Imperfecta and Achondroplasia), 16 nonsyndromal and 3 sequence multiple (Pierre Robin, diaphragmatic hernia with dextrocardia and breech presentation sequence) malformations. Skeletal anomalies were leading among the group (46.29%), followed by genitourinary (GU) defects (12.14%) and neural tube fusion defects (NTFD) (11.21%). Incidence of low birth weight (LBW) was 6% among the studied group of newborns and 26.56% among the group with MCA. Incidence of MCA among the group of LBW was 7.32%. While 65.62% of cases were amenable to surgery the malformed infants formed 24.34% of all perinatal death suggesting that improved care given to these patients will appreciably participate in reducing perinatal mortality. Incidence of NTFD (3.10/1000 births) was higher than in many western and middle eastern reports suggesting the need for further testing for incidence and etiology. Among the malformed infants, the rate of low birth weight and the rate of parental first cousin consanguinity were significantly higher than corresponding rates among normal infants in a control group.[1]

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