Oral-Facial-Digital Syndrome Type 1: Oral Features in 12 Patients Submitted to Clinical and Radiographic Examination

Objective: To evaluate the oral features in individuals with oral-facial-digital syndrome type 1 (OFD 1), previously diagnosed by the Genetic Sector of the Hospital of Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP).Design: Twelve patients with OFD 1 were examined clinically and radiographically; their medical files were also evaluated.Results: Associated oral malformations were observed in all patients (100%). The most frequent findings were tongue hamartomas, multiple buccal frena, asymmetric lips, asymmetric tongue, and bilateral maxillary gingival swelling. Interestingly, atrophy of the maxillary midline frenum was also observed in all the individuals examined.Conclusions: Several extra and intraoral alterations were observed in patients with OFD 1. The authors suggest the inclusion of atrophy of the maxillary midline frenum as a commonly found characteristic of OFD 1.

Management of an Unusual Presentation of Ascher Syndrome

Ascher syndrome is defined by the association between double lip, blepharochalasis, and nontoxic goiter. Because it is a rare disease, it is most often misdiagnosed, despite its implications for quality of life. We report a variation of an incomplete type of Ascher syndrome affecting the upper lip, upper eyelids, and lateral canthi of a young male patient. The surgical management, follow-up, and a brief overview of the syndrome are described. The results presented show an aesthetic and functional improvement of the facial deformities.

A new species of Proceratophrys (Anura: Leptodactylidae) from the Amazon rain forest

A new Proceratophrys from Rondonia, Brazil, is described based on adults and tadpoles. The new form represents a species with eyelids bordered by large, irregularly arranged, warts; postocular swellings absent; snout obtuse with flaring lip in profile; tympanum defined as a depression in the skin; and dorsal surfaces of body and leg bearing high elevated warts. The new species extends the known distribution of the genus to the northwest and represents the first described species of Proceratophrys from the Amazon rain forest. We discuss the species group arrangement in Proceratophrys based on morphology, geographic distribution, and habitat.

Surgical treatment of mucocele in an 11 month-old baby: a case report.

The present report describes the occurrence of mucocele in the lower lip of an 11 month-old baby. The treatment instituted was the excision of the lesion. Microscopic examination confirmed the diagnosis of mucocele. Three months after surgery, no sign of recurrence was observed.

Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley-Liss, Inc.

Labio doble congénito asociado a hemangiomas: A propósito de un caso

Double lip is a developmental abnormality which may occur either isolated or as a component of Ascher's syndrome. A case of congenital double lip associated to hemangiomas and enlargement of the thyroid is reported. The oral and facial hemangiomas were excised under local anesthesia. Surgical reconstruction of the upper lip was done in order to reduce the interference with speech and mastication. The recognition and treatment of the abnormalities are discussed.

Fenda cervical mediana

The midline cervical cleft is an unusual congenital anomaly of the ventral neck and fewer than 100 cases have been reported overall and the first described by Bailey in 1924. This anomaly is report in association with median cleft of lower lip, cleft mandible and tongue, and hypoplasia of other midline neck structures. Its considered an anomaly originated from the two first branchial arches. The treatment of this cleft is a vertical complete excision and a closure with multiple Z-plasty. Many authors recommend avoid linear closure and prefer multiple Z-plasty for evicted fibrosis and local retraction. In this paper we report 2 case of this anomaly and the literature is reviewed.

Esthetic influence of negative space in the buccal corridor during smiling

The purpose of this study was to measure and verify the esthetic influence of the bilateral spaces between maxillary teeth and lip corners, called negative space (NS), during smile. The sample was comprised of 60 smile photographs obtained from 60 individuals (30 men and 30 women) aged 18 to 25 years old. Two orthodontists and two lay people evaluated these pictures regarding esthetics by a visual analogue scale. In each picture, the right and left NS were measured in millimeters and in proportion to the smile width (SW). Data were analyzed for statistical significance (P = .05). The mean NS of the sample was 6.68 ± 1.99 mm, and the NS proportion in relation to the SW was 9.6 ± 2.56%, for both sides of the arch. No significant asymmetries were observed between the right and left sides. The NS was significantly larger in men than in women when measured in millimeters (P = .028) (7.08 ± 2.24 mm in men vs 6.28 ± 1.62 mm in women), but the NS proportion to the SW was similar (9.94 ± 2.24% in men vs 9.26 ± 1.61% in women). When the 12 individuals with the smallest NS in proportion to SW were compared with the 12 individuals with the largest NS in proportion to SW, there was no statistical difference regarding the esthetic evaluation (P = .11). It was concluded that the NS did not influence the esthetic evaluation of smile photographs in the sample in this study, for both orthodontists and lay people. © 2006 by The EH Angle Education and Research Foundation, Inc.

Incidência de malformações congênitas em crianças concebidas através de injeção intracitoplasmática de espermatozóides

Purpose: to evaluate the incidence and types of major congenital malformations (MCM) in liveborn children conceived by intracytoplasmic sperm injection (ICSI). Methods: a total of 680 liveborn children resulted from 511 couples submitted to ICSI from January, 1999 to December, 2002. Data collection of the children was performed through standardized questionnaire and clinical examination. Of the 511 couples, 366 had been contacted for a sampling of 371 gestations. Of the 680 liveborn, 520 had been evaluated, 250 of them (48.1%) through questionnaire and 270 (51.9%) through questionnaire and physical examination. Two hundred and fifty children were from singleton pregnancies and 270 from multiple pregnancies. Malformations were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health. Only MCM were analyzed in this study. The incidence of MCM was compared with that of the general population obtained by the Latin American Collaborative Study of Congenital Malformations. The statistical analysis was performed by the χ 2 test (level of significance p<0.05). Results: of the 520 children, 15 presented MCM, resulting in an incidence of 2.9%. There was no difference in relation to the control group (p>0.05), which showed 2.6% incidence of MCM. The most frequent malformations were of cardiac origin (four isolated and two associated), corresponding to 40% of the total. The other types of MCM were: renal (three), neural tube (two), skull (one), cleft lip (one), genital (one), Down syndrome (associated with cardiac malformations) (two), and musculoskeletal (one). Six MCM occurred in children from singleton pregnancies and nine in children from multiple pregnancies. Conclusion: the liveborn children conceived by ICSI presented incidence of major congenital malformations (2.9%) near to the expected for the general population (2.6%). However, to establish the risks of MCM with precision it is necessary to continue the evaluation of the children conceived by ICSI.

Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence

Cleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T polymorphisms in 60 parent-child triads, in which the NS-CL/ P affected child had at least one affected parent. No association with genes MSX1 or TGFB3 was found, but the results were suggestive of an association of the MTHFR-C677T polymorphism with NS-CL/P. © 2006 Sociedade Brasileira de Genética.

Efeito do praziquantel incorporado a lipossomas nos diferentes estágios de desenvolvimento dos ovos de Schistosoma mansoni

Mansonian schistosomiasis is caused by an intravascular digenetic trematode Schistosoma mansoni. Praziquantel (PZQ) and oxamniquine (OXA) are the drugs of choice for the treatment of this disease. However, both drugs are subject to some limitations in their action and cases of tolerance and resistance have been reported. Moreover, tolerance and resistance cases have been reported. For this reason, there is an urgent need for research on new alternatives aimed at improving the action of existing drugs, such as the incorporation of these drugs into liposomes. In this study, the efficiency of action of liposome- encapsulated praziquantel (lip.PZQ) on oviposition by S. mansoni, strain BH, was assessed in Mus musculus mices (SPF Swiss mice). Four PZQ and lip.PZQ doses (47; 60; 250 e 300mg/kg) were tested. Some mice were treated 30 days post-infection and others after 45 days. The oogram analyses showed that the most effective lip.PZQ treatment was 300mg/kg dose given on the 45th day post infection, which reduced the number of S. mansoni eggs per gram of tissue.

Studying the satisfaction of patients on the outcome of an aesthetic dermatological filler treatment

Background: Many factors contribute to extend productive life in the modern world. Competition makes people worry about physical appearance, mosftly in respect to facial and skin aging. This has motivated new developments in cosmetic dermatology and the need of evaluating patient satisfaction with the new proposed treatments. Poll questionnaire has been used for such evaluation, and the analysis of the electroencephalogram (EEG) mapping obtained while the patient answers the satisfaction questionnaire may render the results less subjective. Objectives: The purpose of this paper is to study the satisfaction of a group of 33 women (mean age, 44.years) treated with hyaluronic acid filling of nasolabial folding or lips, combining the EEG brain mapping and questionnaire techniques. Methods: At the third month of evaluation, two networked personal computers were used for the EEG recording and for presenting the patient with a questionnaire about her well-being feeling; self-evaluation of her face; her satisfaction with the results of the aesthetic treatment; how the family, friends, and people at work evaluated the result of the treatment; and her decision to repeat the treatment and to recommend it to friends and family. Results: Poll results showed that patients were feeling well and were satisfied with the results of the aesthetic treatment. Furthermore, the regression EEG mappings showed patients to be satisfied with their appearance and with the treatment involving similar brain areas. Conclusion: Patients decided to undergo the treatment because they were already considering it (54%) or because they were dissatisfied with their lips or nasolabial folding (52%). The fact that the treatment was free of charge solidified the decision. Patients consider themselves as good-looking and they wanted to preserve such a condition. © 2008 Wiley Periodicals, Inc.

Orthognathic Surgery in the Young Cleft Patient: Preliminary Study on Subsequent Facial Growth

Purpose: This study evaluated the long-term effects of orthognathic surgery on subsequent growth of the maxillomandibular complex in the young cleft patient. Patients and Methods: We evaluated 12 young cleft patients (9 male and 3 female patients), with a mean age of 12 years 6 months (range, 9 years 8 months to 15 years 4 months), who underwent Le Fort I osteotomies, with maxillary advancement, expansion, and/or downgrafting, by use of autogenous bone or hydroxyapatite grafts, when indicated, for maxillary stabilization. Five patients had concomitant osteotomies of the mandibular ramus. All patients had presurgical and postsurgical orthodontic treatment to control the occlusion. Radiographs taken at initial evaluation (T1) and presurgery (T2) were compared to establish the facial growth vector before surgery, whereas radiographs taken immediately postsurgery (T3) and at longest follow-up (T4) were used to determine postsurgical growth. Each patient's lateral cephalograms were traced, and 16 landmarks were identified and used to compute 11 measurements describing presurgical and postsurgical growth. Results: Before surgery, all patients had relatively normal growth. After surgery, cephalograms showed statistically significant growth changes from T3 to T4, with the maxillary depth decreasing by -3.3° ± 1.8°, Sella-nasion-point A by -3.3° ± 1.8°, and point A-nasion-point B by -3.6° ± 2.8°. The angulation of the maxillary incisors increased by 9.2° ± 11.7°. Of 12 patients, 11 showed disproportionate postsurgical jaw growth. Maxillary growth occurred predominantly in a vertical vector with no anteroposterior growth, even though most patients had shown anteroposterior growth before surgery. The distance increased in the linear measurement from nasion to gnathion by 10.3 ± 7.9 mm. Four of 5 patients operated on during the mixed dentition phase had teeth that erupted through the cleft area. A variable impairment of postoperative growth was seen with the 2 types of grafting material used. No significant difference was noted in the effect on growth in patients with unilateral clefts versus those with bilateral clefts. The presence of a pharyngeal flap was noted to adversely affect growth, whereas simultaneous mandibular surgery did not. After surgery, 11 of 12 patients tended toward a Class III end-on occlusal relation. Conclusions: Orthognathic surgery may be performed on growing cleft patients when mandated by psychological and/or functional concerns. The surgeon must be cognizant of the adverse postsurgical growth outcomes when performing orthognathic surgery on growing cleft patients with the possibility for further surgery requirements. Performing maxillary osteotomies on cleft patients would be more predictable after completion of facial growth. © 2008 American Association of Oral and Maxillofacial Surgeons.

Dental trauma involving root fracture and periodontal ligament injury: A 10-year retrospective study

The purpose of this retrospective study was to analyze the cases of traumatic dental injuries involving root fracture and/or periodontal ligament injury (except avulsion) treated at the Discipline of Integrated Clinic, School of Dentistry of Araçatuba, São Paulo State University (UNESP), Brazil, from January 1992 to December 2002. Clinical and radiographic records from 161 patients with 287 traumatized teeth that had sustained root fracture and/or injuries to the periodontal ligament were examined. The results of this survey revealed that subluxation (25.09%) was the most common type of periodontal ligament injury, followed by extrusive luxation (19.86%). There was a predominance of young male patients and most of them did not present systemic alterations. Among the etiologic factors, the most frequent causes were falls and bicycle accidents. Injuries on extraoral soft tissues were mostly laceration and abrasion, while gingival and lip mucosa lacerations prevailed on intraoral soft tissues injuries. Radiographically, the most common finding was an increase of the periodontal ligament space. The most commonly performed treatment was root canal therapy. Within the limits of this study, it can be concluded that traumatic dental injuries occur more frequently in young male individuals, due to falls and bicycle accidents. Subluxation was the most common type of periodontal ligament injury. Root canal therapy was the type of treatment most commonly planned and performed.

Conservative management of severe intrusion in a primary tooth: A 4-year follow-up

The purpose of this report was to describe the case of an 18-month-old boy who was referred to the pediatric clinic of the School of Dentistry of Araçatuba, São Paulo State University, Araçatuba, São Paulo, Brazil, 3 days after sustaining severe trauma that led to the complete intrusion of the primary maxillary right lateral incisor, a crown fracture of the primary maxillary right central incisor without pulp involvement, and disruption of the superior labial frenum. Four months later, spontaneous re-eruption was observed in the intruded tooth and no endodontic intervention was necessary in either traumatized teeth. Four years after the trauma, a morphological change in the germ of the permanent successor was noted. Clinical follow-up and periodic radiographies are necessary after traumatic intrusion of primary teeth to monitor possible sequelae in the permanent successors.