Syndromes of the First and Second Branchial Arches, Part 2: Syndromes

Abstract

SUMMARY:A variety of congenital syndromes affecting the face occur due to defects involving the first and second BAs. Radiographic evaluation of craniofacial deformities is necessary to define aberrant anatomy, plan surgical procedures, and evaluate the effects of craniofacial growth and surgical reconstructions. High-resolution CT has proved vital in determining the nature and extent of these syndromes. The radiologic evaluation of syndromes of the first and second BA should begin first by studying a series of isolated defects (cleft lip with or without CP, micrognathia, and EAC atresia) that compose the major features of these syndromes and allow a more specific diagnosis. After discussion of these defects and the associated embryology, we discuss PRS, HFM, ACS, TCS, Stickler syndrome, and VCFS.

Malformations of the Zygomatic and Maxillary Regions

“…It is also named as the first branchial arch syndrome, hemifacial microsomia, Goldenhar syndrome, oculoauriculovertebral spectrum, and so on. 2 Its main clinical manifestations include facial asymmetry and facial clefts (including hypoplasia of unilateral maxilla, mandible, temporal bones, and zygoma accompanied with or without bilateral or unilateral cleft lip and palate or horizontal clefts), micrognathia, ocular anomalies (including ipsilateral ptosis, defect or small palpebral fissure, dermoid eye, and eye movement disorders), central nervous system deficits, and auricular atresia along a spectrum from an isolated malformed auricle to, at the most extreme form, an absent external auditory canal with severe inner, middle, and external ear defects. Some of the abnormal clinical symptoms overlap with other syndromes in the maxillofacial region, such as the auriculocondylar syndrome, Treacher-Collins syndrome, Pierre Robin sequence, and velocardiofacial syndrome.…”

“…Some of the abnormal clinical symptoms overlap with other syndromes in the maxillofacial region, such as the auriculocondylar syndrome, Treacher-Collins syndrome, Pierre Robin sequence, and velocardiofacial syndrome. 2 Although the exact causes of these syndromes are not entirely clear, some existing evidences indicate that they resulted from abnormalities in the quantity or quality of neural crest cell migration (ie, Treacher-Collins syndrome and velocardiofacial syndrome). Some differences between abnormalities of the first and second branchial arch derivatives may reflect differences in the embryologic age at the time of the insult with respect to neural crest cell migration.…”

Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

“…Facial dysmorphism, particularly when associated with disorders of the first and second branchial arches, generally results from a combination of migration and inadequate formation of facial mesenchyme [9]. Several syndromes have been described, among which the main ones are Pierre Robin, hemifacial microsomia, Goldenhar, Treacher-Collins, Nager, and velocardiofacial syndromes.…”

Coexistence of bilateral first and second branchial arch anomalies

“…Bilateral presentation is seen in 2–3%, with a strong familial association 4. Congenital syndromes that have been associated with first and second branchial arch anomalies include Oculoauricularvertebral dysplasia (Goldenhar syndrome), Branchio-oto-renal syndrome, Treacher-collins syndrome, Pierre-Robinson sequence and Auriculocondylar syndrome 15. A thorough clinical examination should be done and if suspected, proper investigations must be carried out to rule out these syndromes.…”