BACKGROUND: Retrospective studies of cleft lip and palate patients suggest a multifactorial aetiology for this condition. Many patients exhibit multiple defects, often removed from the orofacial region. The frequency and location of such coexistent abnormalities vary between studies. PATIENTS: A retrospective case-note study of 1,737 individuals with orofacial cleft, treated between 1974 and 1998 at our centre, was undertaken to assess the frequency of associated malformations and syndromes. RESULTS: Associated malformations were found to be present in 33% of all cases investigated. In nearly one half of these individuals (48%), defects could be attributed to recognisable syndromes. Patients with isolated palatal clefts (45.6%) and those with bilateral clefts of the lip and palate (35.3%) were particularly well-represented. The following problems were observed relatively frequently: Cerebral anomalies (16%), facial anomalies (14%), heart malformations (15%), anomalies of the extremities (9%) and urogenital tract abnormalities (8%). In contrast, endocrine aberrations were identified sporadically (0.5%). A partial situs inversus was found only in one case. CONCLUSION: As clefts of the lip and palate are frequently associated with additional malformations, the importance of thorough interdisciplinary neonatal screening cannot be over emphasised.
BACKGROUND: Retrospective studies of cleft lip and palatepatients suggest a multifactorial aetiology for this condition. Many patients exhibit multiple defects, often removed from the orofacial region. The frequency and location of such coexistent abnormalities vary between studies. PATIENTS: A retrospective case-note study of 1,737 individuals with orofacial cleft, treated between 1974 and 1998 at our centre, was undertaken to assess the frequency of associated malformations and syndromes. RESULTS: Associated malformations were found to be present in 33% of all cases investigated. In nearly one half of these individuals (48%), defects could be attributed to recognisable syndromes. Patients with isolated palatal clefts (45.6%) and those with bilateral clefts of the lip and palate (35.3%) were particularly well-represented. The following problems were observed relatively frequently: Cerebral anomalies (16%), facial anomalies (14%), heart malformations (15%), anomalies of the extremities (9%) and urogenital tract abnormalities (8%). In contrast, endocrine aberrations were identified sporadically (0.5%). A partial situs inversus was found only in one case. CONCLUSION: As clefts of the lip and palate are frequently associated with additional malformations, the importance of thorough interdisciplinary neonatal screening cannot be over emphasised.