Facial clefts in the west of Scotland in the period 1980-1984: Epidemiology and genetic diagnoses

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Abstract

Two hundred and eighty six cases of cleft lip, cleft palate, or both were identified in a study attempting complete ascertainment of babies with facial clefts born to women resident in the west of Scotland in a five year period beginning 1 January 1980. The total birth prevalence (TBP) of these defects over this period was 1.53 per 1000. The TBP for cleft lip with or without cleft palate (CL[P]) was 0.74 per 1000 and for cleft palate (CP) was 0.79 per 1000; 26% of CL[P] and 39.5% of CP cases had one or more major congenital anomaly associated with their facial cleft and in over half of these cases a specific genetic or syndrome diagnosis could be made. In comparison to previous European reports this study shows a high incidence of associated abnormalities and a remarkably low ratio of CL[P]:CP cases.

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FitzPatrick, D. R., Raine, P. A. M., & Boorman, J. G. (1994). Facial clefts in the west of Scotland in the period 1980-1984: Epidemiology and genetic diagnoses. Journal of Medical Genetics, 31(2), 126–129. https://doi.org/10.1136/jmg.31.2.126

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