Rare syndromes of the head and face-Pierre Robin sequence

Pierre Robin sequence (PRS) is an association of clinical features consisting of mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to obstructive apnea and feeding difficulties. PRS can occur as an isolated condition or can be found in association with a range of other features in a number of conditions including Treacher collins and Stickler syndromes. The frequent association of the PRS triad suggests a common underlying developmental mechanism which impacts on each of these tissues. Isolated PRS is typically sporadic but when familial usually exhibits autosomal dominant inheritance. The term PRS is applied on the basis of the pattern of malformation rather than etiology and growing evidence indicates that the initiating genetic lesion is variable. Various chromosomal anomalies have been associated with PRS including loci on chromosomes 2, 4, and 17. Associations with genes including SOX9, a number of collagen genes and work with animal models suggest the phenotype derives from a cartilage defect during early facial growth. However, alternative theories have been proposed and these highlight the difficulty of characterising congenital anomalies of craniofacial development in which multiple etiologies can result in very similar phenotypes.