We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-lin...

INTRODUCTION Most metastatic lymph nodes from head and neck malignancy are solid. Cystic nodes are found in 33% - 61% of carcinomas arise from Waldeyer's ring, of which only 1.8% - 8% originate are from the nasopharynx. Some cystic cervical metastases were initially presumed to be branchial cleft cyst. This case report aims to highlight the unusual presentation of cystic cervical metastasis sec...

Branchial cleft anomalies are rare congenital malformations that result from the abnormal persistence of branchial clefts during embryogenesis and manifest clinically as cysts, sinuses, or fistulae. In greater than 95% cases, originate remnants second cleft. Identification anomalies, particularly fistulae, important these findings may be part a larger syndromic clinical presentation such branch...

Branchial cleft anomalies are developmental disorders of the neck. The aim of this study was to evaluate the data of our patients, who have been diagnosed and treated for second branchial abnormalities in the last six years. We report our clinical experience in second branchial anomalies with a review of the literature. Our study is a retrospective one on a number of 23 patients hospitalized wi...

Outgrowth and fusion of the lateral and medial nasal processes and of the maxillary process of the first branchial arch are integral to lip and primary palate development. Wnt9b mutations are associated with cleft lip and cleft palate in mice; however, the cause of these defects remains unknown. Here, we report that Wnt9b(-/-) mice show significantly retarded outgrowth of the nasal and maxillar...