Phenotypic heterogeneity in neural tube defects: A clue to causal heterogeneity
作者： R. A. Martin , R. M. Fineman , L. B. Jorde , John M. Opitz
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摘要: We report here retrospective data on 991 liveborn and stillborn infants with neural tube defects (NTDs) born to Utah residents from January 1, 1940 December 31, 1979. Data were obtained multiple sources including approximately 1.25 million vital statistics records several hundred physician hospital charts. Causal heterogeneity among NTD patients is presumed because 6% of our cases have other congenital anomalies not part the field defect. A significant association NTDs oral clefts noted. Sex ratios empiric recurrence risks for isolated associated major malformations are also calculated.
sci-hub.se 参考文章(8)
M J Khoury, L M James, J D Erickson, Etiologic heterogeneity of neural tube defects. II. Clues from family studies. American Journal of Human Genetics. ,vol. 34, pp. 980- 987 ,(1982)
Broadbent Tr, Woolf Cm, Woolf Rm, A genetic study of cleft lip and palate in Utah. American Journal of Human Genetics. ,vol. 15, pp. 209- 212 ,(1963)
Muriel Mackeprang, Sylvia Hay, Anders S. Lunde, Completeness and accuracy of reporting of malformations on birth certificates. HSMHA health reports. ,vol. 87, pp. 43- 49 ,(1972) , 10.2307/4594425
MUIN J KHOURY, J. DAVID ERICKSON, LEVY M. JAMES, Etiologic heterogeneity of neural tube defects: clues from epidemiology. American Journal of Epidemiology. ,vol. 115, pp. 538- 548 ,(1982) , 10.1093/OXFORDJOURNALS.AJE.A113335
John M. Opitz, Enid F. Gilbert, CNS anomalies and the midline as a “developmental field” American Journal of Medical Genetics. ,vol. 12, pp. 443- 455 ,(1982) , 10.1002/AJMG.1320120408
Robert J. Gorlin, Michael M. Cohen, Stefan L. Levin, Syndromes of the head and neck Plastic and Reconstructive Surgery. ,vol. 89, pp. 153- 154 ,(1992) , 10.1097/00006534-199201000-00039
Lewis B. Holmes, Shirley G. Driscoll, Leonard Atkins, Etiologic heterogeneity of neural-tube defects. The New England Journal of Medicine. ,vol. 294, pp. 365- 369 ,(1976) , 10.1056/NEJM197602122940704
Bartley Ja, Hall Bd, Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth defects original article series. ,vol. 14, pp. 127- 137 ,(1978)