Branchial arch syndromes

Branchial arches are critical for the development of the lower portion of the craniofacies, the muscles of the pharynx and jaw, the cardiac conotruncal region, and the salivary, thymus, and parathyroid glands. In addition, branchial arch mesoderm merges with neural crest cells to form an ectomesenchyme that is important for the development of the cranial nerves. The embryonic derivatives of the branchial arches explain the anomalies seen in children with branchial arch syndromes: craniofacial anomalies of the mandible, maxilla, palate and ears; palatal, salivary gland, and pharyngeal muscle hypoplasias that cause oromotor dysfunction and feeding difficulties; and cranial nerve, optic, otic, and cardiac anomalies that include neurosensory and cognitive deficits. Preventive management is enormously important for children with branchial arch syndromes, since many of their feeding, neurosensory, and learning problems can be anticipated and treated.

Table 15.1 summarizes the clinical manifestations of several branchial arch syndromes. The Goldenhar syndrome-hemifacial microsomia spectrum is the most common, and will be discussed in detail after a review of other branchial arch syndromes.

Branchio-oculo-facial syndrome

Hall first described in 1983 an autosomal-dominant (AD) syndrome consisting of hemangiomatous branchial clefts, eye anomalies, nasolacrimal duct obstruction, and occasion limb or renal anomalies (Jones, 1997, pp. 246–7, Gorlin et al., 2001, pp. 895ndash;7). The branchial clefts may appear as cysts, fistulas, hemangiomas, or cutis aplasia in the lateral neck region, and some patients have had upper lip clefts.