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

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.

Apical root resorption after orthodontic treatment in patients with unilateral cleft lip and palate.

OBJECTIVES: The aims of this retrospective longitudinal study were to present the incidence of external apical root resorption (EARR) in the maxillary anterior teeth of patients with complete unilateral cleft lip and palate (CUCLP) and to evaluate the influence of orthodontic treatment variables on the development of EARR. MATERIAL AND METHODS: Forty-one patients with CUCLP participated in the study. Orthopantomograms (OPGs), taken before (T2) treatment with multiband orthodontic appliances (MBA), and periapical radiographs (PAs) of the maxillary anterior teeth taken at the end (T3) of orthodontic treatment (OT) were assessed for EARR. RESULTS: The incidence of EARR at T3 (97.6%) was considerably higher than at T2 (51.2%). Central incisors and canines on the cleft side showed a significantly higher score (p < 0.01, p < 0.05 respectively) of EARR in comparison to the same group of teeth on the non-cleft side. Preexisting EARR and abnormal root morphology were identified as predisposing factors for EARR. CONCLUSIONS: Patients with CUCLP treated with MBA have higher incidence of EARR on the maxillary anterior teeth of the cleft side. Severe EARR is rather rare but more often seen on central incisors of the cleft side. CLINICAL RELEVANCE: As most of the patients with cleft lip and palate undergo a challenging and long-term OT with MBA, it is of importance to identify the predisposing factors related to the special anatomical features of the bone and teeth located in the cleft area, as well as the special OT needs of these patients.

Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin.

Orofacial clefts are among the most common of all congenital disorders. Nonsyndromic cases of cleft lip with or without cleft palate (NSCL/P) and cleft palate only (NSCPO) are considered to have a multifactorial etiology which involves both genetic and environmental factors. We present the results of a genome-wide linkage scan in 91 families of central European descent with nonsyndromic orofacial clefts (NSC). The sample included 74 NSCL/P families, 15 NSCPO families, and 2 mixed families (a total of 217 affected and 230 unaffected individuals were genotyped). We genotyped 542 microsatellite markers (average intermarker distance = 6.9 cM). Multipoint nonparametric linkage analysis was performed using Allegro 2.0f. In addition to the factors investigated in previous genome-wide linkage analyses, we searched for sex-specific susceptibility loci, loci demonstrating parental imprinting and loci that are shared by NSCL/P and NSCPO. Several genomic regions likely to contain susceptibility loci for NSC were identified at the level of nominal significance. Some of these overlap with regions identified in previous studies. Suggestive evidence of linkage was obtained for the loci 4q21-q26 and 1p31-p21, with the chromosome 1 locus showing a male-specific genetic effect. Our study has identified promising chromosomal regions for the identification of NSC-associated genes, and demonstrates the importance of performing detailed statistical analyses which take into account complex genetic mechanisms such as sex-specific effects and genomic imprinting. Further research in large patient samples is necessary to identify factors common to NSCL/P and NSCPO.

Orthodontic and surgical treatment of patients with congenital unilateral and bilateral mandibulofacial dysostosis.

AIM: Presentation of results following therapy of patients with different forms of mandibulofacial dysostosis. MATERIAL AND METHODS: Case reports of four patients, two with unilateral and two with bilateral mandibulofacial dysostosis, are presented. The symptoms and the problems involved in treatment are described. RESULTS: Protracted treatment resulted in improved facial symmetry, a harmonized profile, and acceptable occlusion. CONCLUSION: The rehabilitation of patients suffering from congenital facial malformations such as mandibulofacial dysostosis demands an experienced team of orthodontists and maxillofacial surgeons as well as persistence on the part of the patients and their families if good esthetic and functional results are to be achieved.

The soft-tissue facial profile of patients with unilateral clefts of the lip, alveolus, and palate compared with healthy adults.

PATIENTS AND METHOD: In this study the soft-tissue profile of 84 patients aged between 16 and 29 years after complete rehabilitation of a unilateral cleft of the lip, alveolus, and palate was compared on lateral cephalograms with that of 58 adult probands with no cleft formation. RESULTS AND CONCLUSION: In the patient group, the thickness at nasion, the subnasal thickness, the upper alveolabial sulcus thickness, the upper lip prominence, and the mental thickness were less pronounced than in the control group. In contrast, the patients showed significantly higher values in the prominence and thickness of the lower lip. These results indicate a less dominant development of the upper lip and a more voluminous lower lip in comparison to the control group. In contrast, the length of the upper lip did not differ significantly between patients and controls. In both groups the facial integument was thicker in males than in females. The soft-tissue anb-angle, the soft-tissue Holdaway II angle, and the nasolabial angle were significantly smaller in the patients than in the controls. Furthermore, the patients showed a distinctly more concave soft-tissue profile than the controls in measurements of the soft-tissue convexity angle. Thus, it is important for all surgeons involved in the rehabilitation of these patients to pay attention not only to an adequate length of the cleft-sided upper lip, but also to attaining a physiological alignment and reconstruction of the muscles, since the orbicularis oris muscle represents the most important component in the form and function of the lip. In addition, discontinuous muscular slings in the facial area may lead to severe midface growth disturbances.