Pierre Robin Sequence Differential Diagnoses

Updated: Sep 08, 2022
  • Author: Marie M Tolarova, MD, PhD, DSc; Chief Editor: Ravindhra G Elluru, MD, PhD  more...
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Diagnostic Considerations

The first diagnostic consideration should be to determine whether Pierre Robin sequence (PRS) is an isolated condition. The most common syndrome with PRS is autosomal dominant Stickler syndrome. In this syndrome, mutations in the COL2A1 or COL11A1 genes cause connective tissue dysplasia that results in a short ramus and antegonial notching of the mandibular body and subsequent micrognathia.

Different forms of Robin complexes also occur. Cohen gave the following two examples [36] :

In the 22q11.2 deletion syndrome, retrognathia and cleft palate are present. Pharyngeal obstruction is caused by hypotonia, not by a flat cranial base angle and retrognathia. Thus, PRS is not present. Rather, in this form of Robin complex, all manifestations are causally, but not sequentially, related. [23]

Differential Diagnoses