Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
l�ll
Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature Vendramini S; Richieri-Costa A; Guion-Almeida MLEur J Hum Genet 2007[Apr]; 15 (4): 411-21The 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.|Abnormalities, Multiple/*diagnosis[MESH]|Adolescent[MESH]|Adult[MESH]|Brazil[MESH]|Child[MESH]|Child, Preschool[MESH]|Diagnosis, Differential[MESH]|Ear, External/*abnormalities[MESH]|Eye Abnormalities/*diagnosis[MESH]|Facial Asymmetry/diagnosis[MESH]|Female[MESH]|Goldenhar Syndrome/diagnosis[MESH]|Heart Defects, Congenital/*diagnosis[MESH]|Humans[MESH]|Infant[MESH]|Male[MESH]|Pedigree[MESH]|Pregnancy[MESH]|Spine/*abnormalities[MESH]|Upper Extremity Deformities, Congenital/*diagnosis[MESH] |