PMID: 3191615Aug 1, 1988Paper

Neural tube defects and omphalocele in trisomy 18

Clinical Genetics
C A MooreD D Weaver


A trisomy 18 fetus with severe congenital anomalies including craniorachischisis, large omphalocele, and bilateral cleft lip and palate is reported. The occurrence of neural tube defects and/or omphalocele in reported cases of trisomy 18 is discussed and the frequency of these anomalies in 85 trisomy 18 patients evaluated at Indiana University School of Medicine from 1963 to 1986 is reviewed. In this series of patients the frequency of neural tube defects was 7.0% and the frequency of omphaloceles was 5.9%. The percentage of these findings in our cases supports the premise that neural tube defects and omphaloceles are part of the trisomy 18 phenotype. Since fetuses with trisomy 18 are subject to early fetal loss or premature birth, the more subtle physical features of this condition may not be apparent. Thus, karyotyping of fetuses and premature infants with either neural tube defect or omphalocele should be considered.


Feb 1, 1978·Journal of Medical Genetics·M E HodesT Reed
Jun 1, 1977·Teratology·M MenashiM M Cohen
May 19, 1976·Human Genetics·J ZizkaM Kodousková
Nov 1, 1985·Prenatal Diagnosis·L B NielsenB Nørgaard-Pedersen
Feb 8, 1986·Lancet·K H NicolaidesC M Gosden
Oct 1, 1987·Prenatal Diagnosis·C G PalmerJ M Friedman
Sep 1, 1986·American Journal of Medical Genetics·L M Muller, G de Jong
Mar 1, 1986·Prenatal Diagnosis·D B Flannery, S G Kahler
Sep 1, 1985·British Journal of Obstetrics and Gynaecology·C GosdenJ C Sharp
Nov 1, 1966·The Journal of Pediatrics·E PassargeK R Keer
Jan 1, 1981·Human Genetics·F GullottaA Gropp
Nov 1, 1984·American Journal of Surgery·O A Mabogunje, G H Mahour
Jan 1, 1982·Journal of Perinatal Medicine·W Schmidt, F Kubli
Jul 1, 1981·Prenatal Diagnosis·R NisaniF Nissim
Apr 9, 1960·Lancet·J H EDWARDSO H WOLFF
Apr 1, 1962·The Journal of Pediatrics·D W SMITHS L INHORN

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