First and second branchial arch syndromes: multimodality approach

Abstract

First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches. They represent the second most common craniofacial malformation after cleft lip and palate. Extended knowledge of the embryology and anatomy of each branchial arch derivative is mandatory for the diagnosis and grading of different BAS lesions and in the follow-up of postoperative patients. In recent years, many new complex surgical approaches and procedures have been designed by maxillofacial surgeons to treat extensive maxillary, mandibular and external and internal ear deformations. The purpose of this review is to evaluate the role of different imaging modalities (orthopantomogram (OPG), lateral and posteroanterior cephalometric radiographs, CT and MRI) in the diagnosis of a wide spectrum of first and second BAS, including hemifacial microsomia, mandibulofacial dysostosis, branchio-oto-renal syndrome, Pierre Robin sequence and Nager acrofacial dysostosis. Additionally, we aim to emphasize the importance of the systematic use of a multimodality imaging approach to facilitate the precise grading of these syndromes, as well as the preoperative planning of different reconstructive surgical procedures and their follow-up during treatment.

Swallowing Therapy for a Case of Congenital Absence of the Epiglottis

“…The epiglottis develops from the hypobranchial arc at approximately the 5 th week of gestational life (7). Retarded development of the hypobranchial arc at any time before the 5th week of gestational life might cause congenital deficiency of the epiglottis, including epiglottic hypoplasia or absence of the epiglottis.…”

“…Cases with hypoplastic epiglottis were also seen in previous reports. A 42-year-old man and a male infant with hypoplastic epiglottis have also been published as case reports (7,8). Existing case reports defined the medical status, anomalies, their evaluation, and management of the patients.…”

Síndrome do Primeiro e Segundo Arco Branquial (SAB)

“…A perda precoce das cristas neurais celulares que são percussoras das células que migram para região de cabeça e pescoço, estimulando o crescimento e diferenciação, pode ter fator específico n a expressão fenotípica da BAS (Monahan R et al, 2001). Alguns estudos demonstram o papel dos gens na codificação e transcrição para determinar o plano craniofacial (Senggen E et al, 2010).…”

“…As síndromes associadas ao primeiro e segundo arcos branquiais (SAB) representam a segunda maior frequência de malformação craniofacial (Vendramini S et al, 1993, Meazzini MC et al, 2008, Senggen E et al, 2010, o que significa, segundo a Organização Mundial de Saúde -OMS, 1 para cada 5600 nascidos vivos.…”

Goldenhar Syndrome in a pediatric patient: a case report and review of literature

“…The incidence of Goldenhar syndrome ranges from 1:3500 to 1:5600 live births, with a gender ratio of 3:2 (male:female), presenting more frequently in children with congenital deafness, at a rate of approximately 1:1000 live births [8][9] . Although its etiology is not yet fully understood, it has been postulated that an abnormal embryonic vascular supply, or disruption to the mesoderm, among other factors, may lead to a defective formation of the branchial arches 10 .…”