[show abstract][hide abstract] ABSTRACT: Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene. The aim of this case report was to describe a family with XLHED with emphasis on differences in orofacial features between members. Family members were systematically evaluated to characterize the pattern of inheritance and clinical features. Dental examination included evaluation of agenesis and abnormal teeth structure. The pedigree of the last seven generations of the family was constructed. Clinical examination and medical history revealed five males affected by HED and nine female as heterozygous carriers. The males exhibited the classic phenotype of XLHED, with dental abnormalities, hypohydrosis, and craniofacial dysmorphologies. The heterozygous carriers of the X-linked gene defect principally exhibited dental agenesis of the lateral maxillary incisors. Careful clinical examination, including dental evaluation, is an important way to detect heterozygous carriers of X-linked HED. Heterozygous parents of patients with HED may also show some features of the disorder. The identification of female carriers results in genetic counseling being offered to affected families, as well as providing adequate treatment as necessary and long-term follow-up of these patients.
[show abstract][hide abstract] ABSTRACT: Abstract Objective: Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate (CL/P). Since dental anomalies may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with nonsyndromic CL/P (NSCL/P). Design, Participants, Setting: Retrospective analysis was performed using clinical records of 296 patients with repaired NSCL/P aged between 12 and 30 years without history of tooth extraction and orthodontic treatment. Associations between oral clefts and presence of dental anomalies outside the cleft area were investigated. Results: Dental anomalies were identified in 39.9% of the NSCL/P patients, and tooth agenesis (47.5%), impacted tooth (13.1%) and microdontia (12.7%) were the most common anomalies. CL patients were less affected by dental anomalies compared with CP or CLP patients (p=0.057). Specifically, unilateral CLP patients were significantly more affected by dental anomalies than bilateral CLP patients (p=0.00002), and individuals with unilateral complete CLP (p=0.002) and complete CP (p=0.01) were significantly more affected by tooth agenesis than other cleft types. Ageneses of the premolars (p=0.043) and maxillary lateral incisors (p=0.03) were significantly more frequent in unilateral complete CLP patients. Conclusions: The present study revealed a high frequency of dental anomalies in NSCL/P patients, and further demonstrated that patients with unilateral CLP were frequently more affected by dental anomalies than bilateral CLP. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL/P. Keywords: Cleft lip and palate; dental anomaly; tooth agenesis; dental treatment.
The Cleft Palate-Craniofacial Journal 10/2011; · 1.24 Impact Factor
[show abstract][hide abstract] ABSTRACT: Cleft lip and/or palate (CL/P) are the most common congenital anomalies of the face. CL/P are non-syndromic (CL/PNS) in about 70% of subjects.
To describe clinical cases of non-syndromic CL/P (CL/PNS) associated with consanguinity, diagnosed at a reference hospital in Minas Gerais, Brazil, and to correlate these alterations with possible risk factors. SERIES AND METHODS: A retrospective study at a reference hospital for craniofacial deformities in Minas Gerais, Brazil from 2006 to 2009 based on data in medical records.
Of 246 CL/PNS cases diagnosed and treated at the institution, 15 (6.1%) were CL/PNS with reported first-degree consanguinity; 73.3% occurred in males. Four of 15 patients had complete right cleft palate and lip (CLP), 4 presented complete cleft palate and lip (right and left), 3 had complete unilateral left CLP, 3 had isolated cleft palate, and 1 presented cleft lip only. Among the risk factors, only three mothers reported smoking during pregnancy.
CLP (unilateral or bilateral) were more frequent in the group with a history of first-degree consanguinity; males predominated. Among the risk factors, only smoking was observed in three cases.
Brazilian journal of otorhinolaryngology 02/2011; 77(1):19-23. · 0.55 Impact Factor
[show abstract][hide abstract] ABSTRACT: Cleft lip and palate (CL/P) are the most common congenital craniofacial anomalies.
To evaluate environmental risk factors for non-syndromic CL/P in a reference care center in Minas Gerais.
we carried out a case-controlled study, assessing 100 children with clefts and 100 children without clinical alterations. The analysis dimensions (age, skin color, gender, fissure classification, maternal and paternal age, birth order and interpregnancy interval), obtained from a questionnaire; and later we build a data base and the analyses were carried out by the SPSS 17.0 software. The results were analyzed with the relative risk for each variable, in order to estimate the odds ratio with a 95% confidence interval, followed by a bivariate and multivariate analysis.
among 200 children, 54% were males and 46% were females. As far as skin color is concerned most were brown, white and black, respectively. Cleft palates were the most common fissures found (54%), followed by lip cleft (30%) and palate cleft (16%).
although with a limited sample, we noticed an association between maternal age and an increased risk for cleft lip and palate; however, paternal age, pregnancy order and interpregnancy interval were not significant.
Brazilian journal of otorhinolaryngology 02/2010; 76(1):107-12. · 0.55 Impact Factor
[show abstract][hide abstract] ABSTRACT: Cleft lip and palate (CL/P) are the most common congenital anomalies of the craniofacial region.
to evaluate the surgical techniques used in CL/P treatment in a craniofacial deformities ward, in Minas Gerais.
In this retrospective study, carried out between 2002 and 2007, we studied 109 individuals with non-syndromic CL/P submitted to treatment. The aspects analyzed (personal identification, classification of CL/P and surgical treatment performed) were obtained from patient charts, and then we built a database and ran statistical analyses through the SPSS 13.0 software. Followed by descriptive analysis of the surgical procedures depending on the type of CL/P found.
Among the 109 patients, 65.1% were males and 34.8% females. We found that 45% of patients had cleft lip and palate, 37.6% cleft lip only and 17.4% cleft palate only. The surgical techniques employed were predominantly those from Millard and Spina for cheiloplasty, McComb for rhinoplasty and, Veau and Van Langenbeeck for palatoplasty.
This study is the first to address treatment procedures for individuals with CL/P in the state of Minas Gerais. For unilateral CL/P we predominantly used the association of McComb, Veau and Millard techniques, respectively, for rhinoplasty, palatoplasty and cheiloplasty, in 76.9% of the patients.
Brazilian journal of otorhinolaryngology 12/2009; 75(6):839-43. · 0.55 Impact Factor
[show abstract][hide abstract] ABSTRACT: To evaluate the biopsychosocial profile of patients with anophthalmia, with emphasis on the psychological and functional impact of eye loss and the social reintegration of this population.
Prospective analyses of 84 patients (50 males and 34 females), rehabilitated or in the rehabilitation process with ocular prostheses were interviewed by means of a questionnaire with dimensions involving the etiology of the ocular defect, degree of adaptation to the ocular prosthesis, and impact on professional, family and social activities.
The right eye was affected in 45.2% of the patients, the left eye in 51.2%, and the rest of the patients had bilateral anophthalmia. Difficulty in adapting to monocular vision was reported by 47.6% of the patients. The main causes of anophthalmia in males were eye injuries due to accidents (54%), and, in females, acquired diseases (38.2%). For the total studied population, the eye loss occurred at a mean of 20.5 +/- 18.41 years, and the elapsed time until the first rehabilitation with ocular prosthesis was of 8.6 +/- 13.10 years. Most patients (66.1%) reported satisfaction and good adaptation to the prosthesis. Feelings of sadness, shame and shyness were frequently reported.
Anophtalmic patients often exhibit psychic and/or functional disorders which hinder their social, professional and family readaptation, and this is aggravated by both economic factors and lack of public services that provide rehabilitative treatment. Public information campaigns could also be useful to prevent causes that lead to ocular loss.