No abstract

Objectives To determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for first-, second-, and third-degree relatives. Design Population based cohort study Setting Denmark Participants 6,776 individuals affected with an oral cleft born from 1952 to 2005 and 54,229 relatives. Main outcome measures Recurrence risk estimates for oral cleft for first-, second-, and third-degree relatives and stratification by severity, specificity, parent of origin effect, and family size for first-degree relatives. Results For cleft lip and palate probands we observed recurrence risks for first-, second-, and third degree relatives of respectively 3.5% (95% confidence interval 3.1% to 4.0%), 0.8 % (0.6% to 1.0%), and 0.6% (0.4% to 0.8%). Individuals affected by the most severe oral cleft had a significantly higher recurrence risk among both offspring and siblings, e.g. the recurrence risk for siblings of a proband with isolated bilateral cleft lip with cleft palate was 4.6% (3.2 to 6.1) versus 2.5% (1.8 to 3.2) for a proband born with a unilateral defect. Conclusions Anatomical severity does have an effect on recurrence in first-degree relatives and the type of cleft is predictive of the recurrence type. Highly reliable estimates of recurrence have been provided for first cousins in addition to more accurate estimates for first and second degree relatives. These results and the majority of prior data continue to support a multifactorial threshold model of inheritance.

This study highlights various challenges involved in questionnaire surveys into patient/parent satisfaction, and underlines the need for collective efforts to improve our understanding of this issue.

The results confirm that systematic differences in dental arch relationships may occur between different cleft centers, but do not allow specific causal factors to be identified.

The results confirm that systematic differences in craniofacial morphology and nasolabial appearance may occur between different cleft centers, but do not allow specific caused factors to be identified.

One hundred and forty-nine dental casts of subjects with complete unilateral clefts of the lip and palate from six European cleft palate centers were assessed by means of the Goslon Yardstick. The Yardstick proved capable of discriminating between the quality of the dental arch relationships between the six centers. Two centers showed especially poor results. Three centers obtained satisfactory results although differing surgical techniques were used in these centers. One of the centers showing satisfactory dental arch relationships employed a more complex and expensive treatment program than the other two centers, which both used simpler centralized treatment regimens.

Measurement of clinical outcome in childhood is an important and valid form of clinical audit. Intercenter studies are more informative than single center reports, and will have an important future role in cleft care.

Protocols for the management of complete unilateral cleft lip and palate can vary dramatically in the burden of treatment imposed.