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Title: Clinical and gene expression studies of palate development
Author: Fitzpatrick, David Robert
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 1992
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In the first part of the study complete ascertainment of facial clefts born in the West of Scotland between 01/01/80 and 31/12/84 was attempted. 286 cases were identified giving a birth prevalence of 1.53 per 1000 total births. Of these 51/286 had cleft lip only, 147/286 had cleft palate only and 88/286 had both. Of the 139 patients with cleft lip with or without cleft palate (CL(P)), the lip defect was unilateral in 86/139, midline in 2/139, bilateral in 41/139 and 10/139 could not be classified. There was significant excess of left-sided cleft lip (55/86) among the unilateral defects (x2 = 6.7 p< 0.05). In the CL(P) group there was an excess of males with a male:female ratio of 1.84:1 (YM x2 = 8.36 p< 0.01). 48/139 of the CL(P) group has congenital anomalies associated with the facial cleft. In the cleft palate only group (CP) the male:female ratio was 0.81:1, this female excess was not statistically significant. 86 of the 147 CP cases had congenital anomalies associated with their facial cleft. The nature of the malformations associated with the facial clefts were recorded in both groups. Data from this study are in broad agreement with previous studies from European populations. There does, however, appear to be an excess of CP cases in this and other Scottish studies. This study provides an unbiased cohort of patients that can be used in future haplotype association studies and to calculate empiric recurrence risks for use in counselling parents of affected children. In the second part of the study the in situ hybridisation technique was employed to study the role of transforming growth factor type beta (TGF beta) isoforms in murine palatogenesis.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available