Frontonasal Dysplasia, Severe Neuropsychological Delay, and Midline Central Nervous System Anomalies: Report of 10 Brazilian Male Patients

Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto-occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia. (C) 2009 Wiley-Liss, Inc.

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH, PTCH, SIX3, GLI2, and TGIF This boy presented a p.K44N (c.132G > T) mutation in exon 2 of the TGIF gene which was inherited from his phenotypically normal mother. This mutation leads to lysine to arginine amino acid change and is predicted to be a damaging mutation. Clinical aspects involving variable phenotypical manifestations in different mutations of TGIF are discussed. (c) 2007 Elsevier B.V. All rights reserved.

Hipotireoidismo congênito: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

O hipotireoidismo congênito (HC) é o distúrbio endócrino congênito mais frequente, com incidência variando de 1:2.000 a 1:4.000 crianças nascidas vivas e uma das principais causas de retardo mental que pode ser prevenida. Os Programas de Triagem Neonatal para a doença permitem a identificação precoce dos afetados e seu tratamento de modo a evitar as complicações da falta do hormônio. A maioria dos casos de hipotireoidismo congênito é decorrente de disgenesias tireoidianas (85%), entre elas a ectopia, hipoplasia ou agenesia tireoidianas, e os demais resultam de defeitos de síntese hormonal. As crianças afetadas (> 95%) geralmente não apresentam sintomas sugestivos da doença ao nascimento. Os sintomas e sinais mais comuns são: icterícia neonatal prolongada, choro rouco, letargia, movimentos lentos, constipação, macroglossia, hérnia umbilical, fontanelas amplas, hipotonia e pele seca. Várias estratégias são utilizadas para a triagem do HC. No Brasil, esta é obrigatória por lei e geralmente é feita com a dosagem de TSH em sangue seco coletado do calcanhar. A idade recomendada para sua realização é após as 48 horas de vida até o quarto dia. A confirmação diagnóstica é obrigatória com as dosagens de TSH e T4 livre ou T4 total.

Resultado perinatal de fetos com malformações do trato urinário

PURPOSE: to evaluate the perinatal outcome of fetuses with congenital anomalies of the urinary tract. METHODS: we reviewed the perinatal outcome of 35 fetuses with congenital anomalies of the urinary tract. The following characteristics related to the uropathy were analyzed: type (hydronephrosis, dysplasia and renal agenesis), side of lesion (bilateral or unilateral), and level of the obstruction (high or low, in hydronephrosis). The perinatal outcome was evaluated according to these characteristics. The data were analyzed by the c² test and by the exact Fisher test. The level of significance was 0.05. RESULTS: the incidence of hydronephrosis was 68.6%. Half of the fetuses had unilateral hydronephrosis. Renal dysplasia occurred in 17.1% of the cases; 83.3% of these were bilateral and 16.7%, unilateral. The incidence of renal agenesis was 14.3%, all bilateral. The fetuses with dysplasia/agenesis had a 91% incidence of oligohydramnios, preterm birth, low birth weight, and death. In the group with bilateral disease the presence of oligohydramnios, preterm birth, low birth weight, death, urinary tract infections, and the need of hospitalization for a period greater than 7 days was significant when compared to the group with unilateral disease. The need of hospitalization for a period greater than 7 days in patients with low obstruction was significantly higher when compared to the patients with high obstruction. CONCLUSIONS: hydronephrosis, bilateral disease, and lower obstruction were the most frequent uropathies. The dysplasia/agenesis group had a worse prognosis when compared with the hydronephrosis group. Bilateral disease had a worse prognosis when compared with the unilateral disease group. In the low obstruction group, the need for a period of hospitalization greater than seven days was higher than in the high obstruction group.

Tubo de Lester-Jones: indicações e resultados

OBJETIVO: Avaliar as indicações, resultados e complicações advindas do seu uso. MÉTODOS: Avaliaram-se retrospectivamente 25 pacientes submetidos a 27 conjuntivorrinostomias com colocação de tubo de Lester-Jones. Foram estudados os dados do portador, a etiologia da afecção e as complicações que ocorreram no intra e no pós-operatório. Os dados foram avaliados segundo a freqüência de ocorrência. RESULTADOS: O tubo de Lester-Jones foi usado igualmente em ambos os sexos, mais em indivíduos abaixo dos 10 ou acima dos 50 anos de idade. As causas mais freqüentes para utilização foram a idiopática ou a agenesia congênita de pontos e canalículos. Houve melhora dos sintomas em 88% dos pacientes. Complicações ocorreram em 59,25% dos casos, dentre as quais: extrusão (40,74%) e a migração (14,8%) do tubo. CONCLUSÃO: Apesar das complicações observadas, o índice de cura com a utilização do tubo de Lester-Jones é alto, sendo boa opção para o tratamento das obstruções lacrimais altas.

The association between prune belly syndrome and dental anomalies: a case report

Background: Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged.Case presentation: The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted.Conclusion: This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions.

Dental abnormalities in children after chemotherapy treatment for acute lymphoid leukemia

The frequency of dental abnormalities, such as delayed dental development, microdontia, hypoplasia, agenesis, V-shaped root and shortened root was evaluated in 76 acute lymphoblastic leukemia (ALL) pediatric patients who had been off chemotherapy for 6 months. These children had been subjected to one of the three Brazilian Protocols or the BFM86 Protocol. The patients were divided into three groups: Group I (GI; high risk) treated with one of the three Brazilian Protocols who received high-dose chemotherapy, intensive maintenance and cranial radiotherapy; Group II (GII; low risk) who were also treated with one of the three Brazilian Protocols using low-intensive chemotherapy with no radiotherapy; and Group III (GIII) based on the BFM86 Protocol.Of 76 children, 13 showed no dental abnormalities (8 were at the age of tooth formation). The remaining 63 children (82.9%) showed at least one dental anomaly.The abnormalities were probably caused by the type, intensity, frequency of the treatment and age of the patients at ALL diagnosis and this might have important consequences for the children's dental development. (C) 2002 Elsevier B.V. Ltd. All rights reserved.

Anoftalmia congênita clínica - alterações oculares e sistêmicas associadas

Purpose: To describe alterations observed in patients with congenital clinical anophthalmia and the occurrence of association with other ocular and extra ocular abnormalities. Methods: An observational retrospective study was conducted evaluating 12 patients with congenital clinical anophthalmia at Faculdade de Medicina de Botucatu-UNESP, between 1992 and 2005. In those patients it was observed the ocular abnormalities, severity, laterality, follow-up and to systemic abnormalities associated. The congenital clinical anophthalmia have been associated to major severity abnormalities extra-oculars, mainly when the anophthalmia was bilateral, such agenesis of corpus callosum, others craniofacial anomalies and cardiac defects. In the cases unilateral, the alteration associated more frequently was the facial asymmetry, showing the direct correlation between anophthalmos and development of orbit and face. Conclusion: There was relation between congenital clinical anophthalmia and ocular abnormally and extra-ocular abnormally. Patients with bilateral anophthalmos disease have more severe alterations. anophthalmia congenital attends a course with abnormalities of development of the face.

Rectovaginal fistula with anal atresia in 5 dogs

Five dogs with rectovaginal fistula and atresia ani that had been treated by surgical correction of the malformations were studied retrospectively. Ages at presentation varied from 1 to 3 months and weight from 350 g to 7.5 kg. The histories included voiding of feces through the vulva, with or without tenesmus, usually observed after weaning. Artesia ani, presence of feces in the vaginal canal, abdominal distention, and discomfort on abdominal palpation were observed during clinical examination. Also, 3 dogs had partial tail agenesis. In all dogs, the rectovaginal fistula was isolated and transected, the vulvar and rectal defects were closed separately, and the atresia ani was repaired. Normal defecation was restored, but 1 dog had fecal incontinence that subsequently resolved. One dog died 2.5 months postoperatively, and follow-up was done on the others for periods ranging from 1.6 year to 7.7 years. Surgical correction in dogs with rectovaginal fistula and atresia ani may result in a favorable outcome, if it is done early.

Bone augmentation and autogenous transplantation of premolar to the site of the fissure in a cleft palate patient

This article presents a case report of autogenous tooth transplantation to the site of the fissure, in addition to bone augmentation with graft of autogenous bone harvested from the iliac crest, performed in a cleft palate patient, who had insufficient bone volume. A non-syndromic 10-year-old girl, with a unilateral cleft lip and palate, incisal transforamen fissures, agenesis of the maxillary left central incisor and both maxillary lateral incisors, was treated with autogenous bone graft in the cleft area. The orthodontic treatment plan was to replace the missing lateral incisors with the maxillary canines and to extract the mandibular first premolars. One of the mandibular premolars was extracted from its site with 2/3 of its root formation completed and transplanted to the maxillary left central incisor area. After orthodontic treatment, the anatomic crowns were characterized with composite resin. Autogenous tooth transplantation can be performed in the area of the fissure in young cleft palate patients, by performing bone graft augmentation before transplantation of the tooth, to gain sufficient recipient alveolar bone volume. A multidisciplinary approach is mandatory for the success of this clinical procedure, especially in cleft palate patients. © 2012 John Wiley & Sons A/S.

Avaliação endócrina e anatomo-morfológica do trato genital de fêmeas suínas

Pós-graduação em Medicina Veterinária - FMVZ

A influência da perda bilateral do primeiro molar inferior permanente na morfologia dentofacial - um estudo cefalométrico

OBJETIVO: avaliar as alterações cefalométricas em pacientes com perda bilateral do primeiro molar inferior permanente. MÉTODOS: foram analisadas 68 telerradiografias laterais de pacientes de consultórios particulares. A amostra foi dividida em dois grupos pareados quanto ao sexo e idade - 34 indivíduos sem perdas (grupo controle) e 34 com perda bilateral do primeiro molar inferior permanente (grupo com perda). Foram excluídos da amostra pacientes que haviam perdido outros dentes que não o primeiro molar inferior, casos de agenesia e pacientes com menos de 16 anos de idade. Buscou-se avaliar somente indivíduos que tivessem relatado a perda há pelo menos 5 anos. RESULTADOS: demonstraram que a perda bilateral do primeiro molar inferior permanente leva ao suave fechamento do ângulo GnSN (P=0,05), um giro anti-horário do plano oclusal (P=0,0001), uma suave diminuição da altura facial anteroinferior (P=0,05), uma acentuada inclinação lingual (P=0,04) e retrusão dos incisivos inferiores (P=0,03). Por outro lado, a perda bilateral do primeiro molar inferior permanente não foi capaz de influenciar a relação maxilomandibular no sentido anteroposterior (P=0,21), a quantidade de mento (P=0,45), a inclinação dos incisivos superiores (P=0,12) e a posição anteroposterior dos incisivos superiores (P=0,46). CONCLUSÃO: a perda bilateral dos primeiros molares inferiores é capaz de produzir alterações marcantes no posicionamento dos incisivos inferiores e no plano oclusal, além de uma suave redução vertical da face.

Agenesia de incisivo lateral superior permanente e a morfologia dentofacial: um estudo cefalométrico

A agenesia dental é a anomalia de número mais freqüente na dentição permanente e o incisivo lateral superior permanente (ILSP) é um dos dentes mais acometidos por essa condição. O objetivo deste estudo foi analisar a influência da agenesia de ILSP sobre a morfologia dentofacial. A amostra consistiu de 100 telerradiografias da cabeça, em norma lateral, de indivíduos de ambos os gêneros, na fase de dentição permanente, com idades variando de 11 a 25 anos (média de 14.3), que foram divididos em dois grupos pareados individualmente segundo o gênero e a idade: um grupo de 50 casos de agenesia uni ou bilateral de ILSP e outro grupo sem agenesia dental, o grupo controle. As telerradiografias laterais foram traçadas e as medidas angulares e lineares foram comparadas entre os dois grupos, através do teste “t” de Student. Os resultados obtidos mostraram que os dois grupos não diferiram significantemente quanto à direção de crescimento facial. A maxila e a mandíbula mostraramse na mesma disposição sagital, quando avaliadas isoladamente em relação à base craniana, e com comprimentos semelhantes nos dois grupos. Entretanto, a convexidade facial mostrou-se significantemente reduzida no grupo com agenesia, medida através do ângulo NAP (P=0.008), bem como a relação maxilo-mandibular entre si, medida pelo ângulo ANB (P=0.017). As alterações mais significantes foram observadas nos incisivos superiores e inferiores, que apresentaram redução significante na inclinação axial e protrusão (P<0.05), com conseqüente aumento do ângulo nasolabial, no grupo com agenesia. Esses resultados permitem concluir que a agenesia de ILSP está associada a alterações na morfologia dentofacial.

Prevalence of mesiodens in orthodontic patients with deciduous and mixed dentition and its association with other dental anomalies

OBJECTIVE: To determine the prevalence of mesiodens in deciduous and mixed dentitions and its association with other dental anomalies. MATERIAL AND METHODS: Panoramic radiographs of 1,995 orthodontic patients were analyzed retrospectively, obtaining a final sample of 30 patients with mesiodens. The following aspects were analyzed: gender ; number of mesiodens; proportion between erupted and non-erupted mesiodens; initial position of the supernumerary tooth; related complications; treatment plan accomplished; and associated dental anomalies. The frequency of dental anomalies in the sample was compared to reference values for the general population using the chi-square test (c²), with a significance level set at 5%. RESULTS: The prevalence of mesiodens was 1.5% more common among males (1.5:1). Most of the mesiodens were non-erupted (75%) and in a vertical position, facing the oral cavity. Extraction of the mesiodens was the most common treatment. The main complications associated with mesiodens were: delayed eruption of permanent incisors (34.28%) and midline diastema (28.57%). From all the dental anomalies analyzed, only the prevalence of maxillary lateral incisor agenesis was higher in comparison to the general population. CONCLUSION: There was a low prevalence of mesiodens (1.5%) in deciduous and mixed dentition and the condition was not associated with other dental anomalies, except for the maxillary lateral incisor agenesis.

Tratamento ortodôntico da agenesia de incisivo lateral superior com envolvimento de fratura radicular de incisivo central superior

Patients with agenesis of maxillary lateral incisor must have in your planning functional and aesthetic considerations, important to the success of the treatment, regardless of whether the choice of treatment is closing or opening and maintenance of space for rehabilitation with prosthesis. This choice will depend on factors such as skeletal and tooth structure and profile. Children and adolescents are the group of individuals most exposed to trauma and fracture of the maxillary lateral incisor due to the activities they perform. Proper diagnosis and good treatment are essential to the success of the treatment. This article aims to report a case of agenesis of the maxillary lateral incisor along with the involvement of a root fracture of the maxillary central incisor. The orthodontic treatment was successfully finished with a favorable prognosis for the fractured incisor to stay in a esthetic and functional position.