1.

  To review the normal CT anatomy of the 1st branchial arch (BA) and associated
structures with embryological correlation.
2.  To illustrate the imaging findings in classic syndromes affecting the first BA and
associated structures.
3.  To discuss the list of differential diagnosis when examining malformations of the
first BA and associated structures.
The 1st BA consists of a maxillary process and a mandibular process. The
mesenchyme of the maxillary process gives rise to the maxilla, zygomatic bone and
part of the temporal bone through membranous ossification. The mandible is also
formed by membranous ossification of mesenchymal tissue surrounding Meckel’s
cartilage. The 1st BA also contributed to formation of the ossicles.
The 1st BA, also called the first pharyngeal arch and mandibular arch, is the first of six
BAs that develops in fetal life. The BAs develop in the 4th and 5th weeks of
development. The 1st BA is located between the stomodeum and the first pharyngeal
groove. This arch divides into a maxillary and a mandibular process. The maxillary
process becomes the maxilla and palate.
3 4 5
Treacher Collins syndrome is a disorder of craniofacial development. The features
include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and
other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive
hearing loss and cleft palate are often present.
12a
A 1st BCC is a cystic mass that arise in the parotid, posterior
Also called DiGeorge syndrome, VCFS is caused by a 1.5 to 3.0-Mb hemizygous submandibular space or preauricular region. It is a remnant of the 1st
deletion of chromosome 22q11.2. The syndrome consists of cleft palate, cardiac branchial cleft due to incomplete closure in utero.
anomalies, typical facies, and learning disabilities. Less frequent features included
microcephaly, mental retardation, short stature, slender hands and digits, minor
auricular anomalies, and inguinal hernia. VCFS is the most frequent clefting
syndrome, accounting for 8.1% of children with palatal clefts seen in their center.
12b 12c 12d Cardiac anomalies were found in 82% including isolated ventricular septal defect and
tetrology of Fallot.
15a 15b 15c

TMJ 10a 10b 10c

Maxilla 15d

Ramus of HFM is a common birth defect involving 1st and 2nd BA derivatives. The phenotype is
mandible
Intermaxillary highly variable. There may be cardiac, vertebral, and CNS defects, in addition to
suture craniofacial anomalies. The features of HFM include unilateral deformity of the 14a 14b 14c A 2nd BCC is the most common BCC accounting for >90% of all BCC
external ear and small ipsilateral half of the face with epibulbar dermoid and vertebral anomalies. It is considered a failure of closure of the cervical sinus.
Angle of
Typically painless mass along the sternocleidomastoid (SCM), but may
mandible anomalies. Coloboma of the upper eyelid is frequent. The ear deformities range from
become infected.
Mandibular preauricular tags of cartilagenous masses, to atresia of the external auditory canal,
10d 10e 10f 10g
symphysis anomalies in the size and shape of the external auricle, and even to anotia. This
Body of
mandible syndrome is sometimes called oculoauriculovertebral dysplasia or Goldenhar
Syndrome.
Mental
Mental tubercle
6 7 8
foramen

1 14f
14d 14e
16a 16b 16c
ACS is characterized by prominent malformed ears with auricular clefts, mandibular
condyle aplasia or hypoplasia, and a number of other features that are secondary to
Zygomatic
arch
the auricular and oral abnormalities. In its most severe form, there is severe
13a 13b 13c
TMJ Failure of fusion between any of the facial structures results in a cleft which may be micrognathia and a characteristically round facial appearance with prominent cheeks.
16d
unilateral or bilateral. The two most common types of facial cleft are cleft lip which
Ramus of Orbitomeatal results from failure of the maxillary swellings to fuse with the intermaxillary process, and Clinical Finding Affected individuals
mandible plane cleft palate, which results from the failure of the palatine shelves to fuse in the midline. Facial anomaly 100% The first branchial arch is the first of six branchial arches and is the embryological
9b
Congenital heart defect 82%
origin of most of the structures of the face. A wide variety of congenital conditions may
arise from its contents. Understanding of the anatomic formation of this region is
Angle of Condylar Speech / Learning difficulties 80%
process important in understanding abnormalities in development which aids in formation of a
mandible
Neonatal hypocalcemia 73% precise diagnoses and lists of differentials.
13d 13e 13f 13g T-Cell deficiency 69%
Coronoid
Body of process Skeletal anomaly 32%
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mandible 2.  Dixon MJ. Treacher Collins syndrome. Hum Mol Genet 1996; 5 Spec No:1391-1396.
Palatal anomaly 31% 3.  Gladwin AJ, Dixon J, Loftus SK, et al. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet
1996; 5:1533-1538.
11a 11b 11c 4.  Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral Dysplasia. J Pediatr 1963; 63:991-999
Asymmetric crying face 21% 5.  Larsen WJ. Human embryology. New York: Churchill Livingstone, 1993.
9a 9c 11a 9d 6.  Moore KL, Dalley AF. Clinically oriented anatomy. Philadelphia: Lippincott Williams & Wilkins, 1999.
2 Renal malformations 15% 7.  Sadler TW, Langman J. Langman's medical embryology. In. 10th ed. Philadelphia: Lippincott Williams & Wilkins, 2006; xiii, 371 p.
8.  Sheffield LJ, Reiss JA, Strohm K, Gilding M. A genetic follow-up study of 64 patients with the Pierre Robin complex. Am J Med Genet 1987; 28:25-36.
9.  Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981; 67:167-172.
Genital anomaly 11% 10.  Shprintzen RJ, Wang F, Goldberg R, Marion R. The expanded velo-cardio-facial syndrome (VCF): additional features of the most common clefting syndrome. Am. J. Hum. Genet. 1985; 37:A77.
11.  Som PM, Curtin HD. Head and neck imaging. St. Louis, Mo.: Mosby, 2003.
12.  Storm AL, Johnson JM, Lammer E, Green GE, Cunniff C. Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. Am J Med Genet A 2005;
138:141-145.