ABSTRACT
The first and second branchial arches are embryonic primordium that contributes to craniofacial development. Interferences in normal development of these structures result in variable maxillary, mandibular, and ear abnormalities. These anomalies can be isolated or part of some known and unknown conditions, among them, the oculoauriculovertebral spectrum (OAVS). Malformations of the external ear or microtia are mandatory features of the OAVS and occur as an isolated malformation (population frequency of 0.03%), or in association with other anomalies such as mandible hypoplasia, epibulbar dermoids, and spinal vertebral defects. Extreme variability of phenotypic manifestations is the main feature of the OAVS and, developmental anomalies are not restricted to facial structures. Cardiac, pulmonary, renal, skeletal, and central nervous system involvements have been observed in patients presented with this condition. Radial defects, although rare, have been reported. In this study, we report on the clinical aspects of 14 Brazilian patients with first and second branchial arches abnormalities associated with radial defects and we compared these data with those of 26 cases in the literature. We postulate that radial defects associated with OAVS might represent a subset within this spectrum.
Subject(s)
Abnormalities, Multiple/diagnosis , Ear, External/abnormalities , Eye Abnormalities/diagnosis , Heart Defects, Congenital/diagnosis , Spine/abnormalities , Upper Extremity Deformities, Congenital/diagnosis , Adolescent , Adult , Brazil , Child , Child, Preschool , Diagnosis, Differential , Facial Asymmetry/diagnosis , Female , Goldenhar Syndrome/diagnosis , Humans , Infant , Male , Pedigree , PregnancyABSTRACT
We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate. Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay. A review of the literature and database programs did not find any syndromes that matched this constellation of findings. We believe that this combination of signs represents a new mandibulofacial dysostosis syndrome whose etiology is unknown.
Subject(s)
Abnormalities, Multiple/pathology , Cleft Palate/pathology , Intellectual Disability/pathology , Mandibulofacial Dysostosis/pathology , Microcephaly/pathology , Child , Child, Preschool , Craniofacial Abnormalities/pathology , Ear/abnormalities , Female , Growth Disorders/pathology , Humans , Infant , Male , Syndrome , Thumb/abnormalities , Toes/abnormalitiesABSTRACT
Nós descrevemos os achados audiológicos de nove pacientes brasileiros com a síndrome Richieri-Costa Pereira. Os principais sinais clínicos observados nesta condição são baixa estatura, sequência de Robin, fissura mandibular e anomalias de membros. Avaliação audiológica, incluindo audiometria tonal liminar, audiometria tonal condicionada, audiometria em campo livre e impedanciometria foram realizadas em nove pacientes com idades variando entre 1 e 23 anos. até o momento, avaliação audiológica em pacientes com este quadro não tem sido descrita na literatura
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Abnormalities, Multiple , Audiology , Dwarfism , Foot Deformities, Congenital , Hand Deformities, Congenital , SyndromeABSTRACT
This report describes several relatives in three generations of one family and another, unrelated boy with auriculo-condylar syndrome, a rare autosomal dominant disorder. Variation in the severity of the abnormalities was observed. We discuss the findings in our patients in relation to those in the literature.
