Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

Abstract

Objectives: To clinically characterize patients and family members with cleft lip and/or palate (CL/P) and associated congenital malformations or syndromes and propose possible inheritance patterns.

Materials and methods: An observational study of patients with CL/P, including medical and family history and intra- and extra-oral examination of their family members, was performed.

Results: Two hundred sixty-six patients, 1257 family members, and 42 pedigrees were included in the study. The distribution of patients according to the cleft type was 57.9% with CLP, 25.2% with cleft palate (CPO), and 12.8% with cleft lip with/without alveolus (CL/A). Seventy-four (27.8%) patients had associated malformations, and 24 (9.2%) a syndrome. The skeletal (27.7%), cardiovascular (19.3%) systems, and eyes (22.9%) were most commonly affected. Pierre Robin Sequence (7 patients) and van der Woude (4) were the most common syndromes. The majority of patients with CPO (19/24) had an associate syndrome. The families had an average of 2.45 affected members.

Conclusion: Individual and interfamilial phenotypic variability in patients with CL/P makes the understanding of etiopathogenesis challenging.

Clinical relevance: The overall prevalence of individuals with CL/P and their pedigrees with associated malformations and syndromes emphasize the need for early identification, interdisciplinary, and long-term planning.