Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, Australia.

OBJECTIVE

To study the birth defects and syndromes associated with cleft lip and/or cleft palate in children born from 2000 through 2002 in Victoria, Australia, comparing data from the birth defects registry and detailed clinical assessment.

DESIGN, SETTING, AND PARTICIPANTS: Data recorded in the Victorian Birth Defects Register were retrieved for all children with cleft lip and/or palate born from 2000 through 2002. In parallel, a cohort of children with clefts was recruited from the two cleft centers in Victoria. Clinical data were collected using structured parental interview, clinical/dysmorphologic examination, and file review.

RESULTS

Victorian Birth Defects Register records of 312 children with cleft lip and/or palate were identified, and 53 children were recruited for the clinical study. The clinical study found a higher proportion of nonisolated clefts than were listed in the registry; this was largely due to the more detailed assessment, but some selection bias was possible. Poor growth and developmental delay were most likely to predict the presence of other birth defects or a syndrome diagnosis in a child with cleft lip and/or palate. The clinical study led to modifications to 16/53 (30.2%) of records in the Victorian Birth Defects Register.

CONCLUSIONS

This study provides complementary registry- and clinic-based data on cleft lip and/or palate-associated malformations and syndrome diagnoses in Australian children and emphasizes the value of having a clinician experienced in dysmorphology involved in cleft services with ongoing reporting to the Victorian Birth Defects Register.