Clinical oral investigations · 2021
Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
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Bartzela Theodosia, Theuerkauf Björn, Reichardt Elisabeth, Spielmann Malte, Opitz Charlotte
Аннотация
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.
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.