Medial displacement of the internal carotid arteries in velocardiofacial syndrome.

• Vol 7 • November 2005 Velocardiofacial Syndrome A 19 month old baby presented with gradually developing respiratory distress and stridor. Episodes of cyanosis during feeding started immediately after birth, accompanied by a weak cry. Fiberoptic pharyngolaryngoscopic examination revealed prominent pulsations along the posterior pharyngeal wall, and severe subglottic stenosis. Computed tomography-angiography of the neck demonstrated severe subglottic stenosis, bilateral enlarged, aberrant, and medially deviated internal carotid arteries, seen in the submucosa of the posterior pharyngeal wall [Figure 1]. A three-dimensional reconstruction of the CT-angiography showed medially positioned internal carotid arteries [Figure 2]. The imaging findings in this infant suggest a diagnosis of velocardiofacial syndrome, also known as DiGeorge sequence or Shprintzen syndrome. Velocardiofacial syndrome is a relatively common, underdiagnosed disorder that presents in approximately 1:3,000 individuals [1]. It is the most common multiple anomaly syndrome associated with cleft palate. It constitutes 8% of patients with cleft palate, including overt, submucous, and occult submucous cleft palate [2]. Approximately 5% of all patients at large interdisciplinary centers dealing with cleft palate-craniofacial entities have this syndrome [2,3]. The syndrome is caused by a deletion in the region of chromosome 22q11.2. The most common features of this syndrome are clefting of the secondary palate, cardiac defects, facial dysmorphism, learning disabilities, as well as speech and feeding problems. Absence or hypoplasia of the adenoids is a common manifestation of the syndrome in addition to velopharyngeal insufficiency with hypernasal speech that requires surgical treatment. Abnormal medial displacement and ectopia of the internal carotid arteries in velocardiofacial syndrome were initially reported by McKenzie-Stepner et al. [4] and D'Antonio and Marsh [5] in 1987. Embryologically, the carotid arteries originate in the third aortic arch and the dorsal aorta. Normally, the dorsal aortic root descends into the chest by the eighth week of development, thereby straightening the course of the internal carotid artery [6]. Incomplete straightening of the carotid vessels enables the embryonic angulation to persist, resulting Medial Displacement of the Internal Carotid Arteries in Velocardiofacial Syndrome