Evaluation of nasolabial aesthetics by different groups in operated unilateral cleft lip and palate.

AIM: The aim of this study is to evaluate and to compare the perception of nasolabial aesthetic by experienced professionals, inexperienced professionals, cleft patients and laypersons in children with unilateral cleft lip and palate (UCLP) using the Asher-McDade Scoring System. MATERIALS AND METHODS: In this retrospective study, 75 patients who applied to Ege University, Faculty of Dentistry, Department of Orthodontics and whose primary surgery operations were completed in Ege University, Faculty of Medicine Department of Plastic and Reconstructive Surgery, were evaluated from the extra-oral and profile photographs. All photographs were arranged according to Asher-McDade Scoring System and evaluated by 4 different groups. 5 people were evaluated in each group consisting of experienced professionals, inexperienced professionals, cleft patients and the laypersons. Nasal form, nasal deviation, vermilion border and nasal profile were evaluated in 5 different categories according to Asher-McDade Scoring System. Statistical analyzes were performed using STATA 11 and MEDCALC software. G Power, Fleiss Kappa, Weighted Kappa and Friedman statistical analyzes were performed for determination of number of individuals, interobserver and intraobserver reliability and comparison of scoring between groups, respectively. RESULTS: In this study, the interobserver agreement was found to be between 0.75 and 0.80 that shows a high degree of reliability. In the comparision made between the groups; experienced professionals and inexperienced professionals; there was moderate agreement in nasal profile scoring (WK 0.2857) (-0.9673/0.6596). There was agreement between experienced professionals and cleft patients in mostly vermilion border (WK 0.5454) (-0.1643/1.0000). There was no agreement between vermilion border between inexperienced professionals and cleft patients (WK 0.9230) (-1.0000/-0.2878), and compliance with the nasal profile mostly (WK 0.5454) (-0.1643/1.0000). There was a similar insignificant agreement between experienced and inexperienced professionals, cleft patients among the laypersons, at all values (WK 0,0000) (-0.0000/0.0000). According to the scoring results of the photographs for experienced professionals; nasal form, nasal deviation, vermilion border and nasal profile were evaluated as bad and close the bad (4.00±0.00, 3.80±0.44, 3.80±0.44, 3.60±0.54); it was found fair and near the bad for inexperienced professionals (3.00±0.00, 3.00±0.00, 3.40±0.54 3.20±0.44) and close the bad for cleft patients (3.60±0.54, 3.80±0.44, 3.80±0.44, 3.40±0.54). But it was found to be acceptable and good for laypersons (2.00±0.00, 2.00±0.00, 2.40±0.54, 1.40±0.54). Laypersons showed statistically significant difference in the evaluation of nasal form, nasal deviation and nasal profile from the cleft patients (P<0.05), while they showed statistically significant difference in all the score from the experienced professionals (P<0.05, P<0.01). CONCLUSION: The aesthetic appearance of nasolabial region is one of the important tools to evaluate the success of the treatment in patients with CLP. The success of primary surgery has one of the most important effects for nasolabial aesthetics on patients with clefts. As a result of the study, the evaluation of cleft patients was found to be similar to that of experienced professionals and lower than that of inexperienced professionals and the laypersons. This result shows us that patients with CLP have higher awareness of self-perception, but these patients may have psychosocial problems ranging from low self-esteem to social isolation risk.

Total anonychia congenita: a rare heterogeneic disorder.

Total anonychia congenita is a very rare disorder in which all the finger nails and the toenails are absent without significant bone anomalies. This condition is reported to have an autosomal dominant inheritance pattern. There are a variety of syndromes or conditions associated with anonychia congenita. In this study we present a monozygotic twin with isolated anonychia congenita totals. Interestingly there is no family history of anonychia and this condition seems to be caused by a sporadic mutation.

Sporadic familial polydactyly.

Polydactyly is one of the most common congenital deformities of the hands. It can occur as an Isolated disorder, in association with other malformations of the hands or feet, or as part of a syndrome. It can occur sporadically but it can also be inherited with a mainly autosomal dominant inheritance. We present a family with three out of four members of the last generation with no previous history of polydactyly. Although the affected children presented different phenotypes of polydactyly, probably all three cases were the result of the same mutation seen in one of the parents. In addition no syndromic association could be found. Our experience with the management of this family's members is presented and possible etiological factors and treatment modalities are discussed.

Report of two cases with Van der Woude syndrome: a child and her mother.

Report of two cases with Van der Woude syndrome: a child and her mother: Congenital pits of the lower lip are rare malformations. They are closely associated with cleft lip (CL), cleft lip/palate (CL/CP) or isolated cleft palate (CP) and if so this condition is known as Van der Woude syndrome, which is inherited in an autosomal dominant fashion with high penetrance. Two individuals, one with lower lip pits and cleft palate and the other with isolated lower lip pit from the same family are described. Autosomal dominant pattern of inheritance was observed in this family and treatment consisted of complete removal of sinus tracts in one patient. Pathological features of sinus tracts consisted of stratified nonkeratinized squamous epithelium and a lamina propria of dense connective tissue. Importance of genetic counseling is emphasized as at least half of gene carriers have some kind of clefting.