To understand the function of murine homeobox genes, a genetic analysis is mandatory. We generated gain-of-function mutants by introducing genomic sequences of the Hox-1.1 gene under the control of a chicken beta-actin promoter into mice. Our previous data had shown that these transgenic mice are nonviable after birth and are born with craniofacial abnormalities. In a subsequent detailed analys...

Disciplina de Neurocirurgia da Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, Botucatu SP, Brasil (UNESP); Serviço de Neurorradiologia Diagnóstica e Intervencionista, Hospital das Clínicas da UNESP, Botucatu SP, Brasil (FMB/UNESP); Setor de Neurorradiologia Intervencionista do Instituto de Radiologia, Hospital das Clínicas da USP, São Paulo SP, Brasil (FMUSP); Service de Neu...

OBJECTIVE To determine incidence and risk factors associated with hearing loss in high-risk neonates in Srinagarind Hospital. STUDY DESIGN Prospective cohort study. MATERIAL AND METHOD High-risk neonates were screened with TEOAE/AABR. All infants were followed for hearing and developmental evaluation until one year of age. RESULTS Four hundred twenty five neonates underwent hearing screen...

Disruption of normal ciliary function results in a range of diseases collectively referred to as ciliopathies. Here we report a child with a phenotype that overlapped with Joubert, oral-facial-digital, and Pallister-Hall syndromes including brain, limb, and craniofacial anomalies. We performed exome-sequence analysis on a proband and both parents, filtered for putative causative variants, and S...

Opitz syndrome is a rare genetic disorder which has been well defined; however, the surgical treatment of the anomalies has not been codified. The objective is to review the literature and describe the surgical priorities in the treatment of Opitz syndrome. This report is unique in the fact that it describes a surgical approach to the treatment of the deformities. Better outcomes are achieved w...

This descriptive study shows the development and evaluation of a model of social competence in young adolescents with craniofacial anomalies. Craniofacial patients (N = 48, 11-14 years) completed the Social Anxiety Scale for Children, selected subscales of the Self-Perception Scale for Adolescents and the Social Support Scale for Children. Their parents completed the Child Behaviour Checklist. ...

PURPOSE Patient's expectations of treatment outcome are one of the key determinants of satisfaction. The aim of this study was to evaluate orthognathic patients' expectations of the outcome of orthognathic treatment. METHODS This study was a cross-sectional qualitative study involving in-depth interviews with patients with dentofacial deformities. Patients who were about to commence orthognat...

Although many amphibian populations around the world are declining at alarming rates, the cause of most declines remains unknown. Environmental contamination is one of several factors implicated in declines and may have particularly important effects on sensitive developmental stages. Despite the severe effects of maternal transfer of contaminants on early development in other vertebrate lineag...

Congenital malformations and cancer may share common etiological factors and the association between nonsyndromic cleft lip and/or palate (NSCL/P) and cancers has been observed in different studies. The objective of this study was to evaluate the frequency of cancer in relatives of patients with NSCL/P. This investigation was a cross-sectional, case-controlled study, evaluating 358 patients wit...

The fractures of the orbital floor are common after craniofacial trauma. Repair with resorbable plates is a viable reconstructive option; however, there are few reports in the literature. This study describes our experience using copolymer polylactic and polyglycolic acid (PLLA/PGA) orbital reconstruction plates (LactoSorb, Lorenz Surgical, Jacksonville, FL) in 29 cases of the orbital floor fra...