Associated anomalies in Pierre Robin sequence

Am J Med Genet A. 2023 Sep;191(9):2312-2323. doi: 10.1002/ajmg.a.63344. Epub 2023 Jul 21.


Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co-occurring with PRS in a well-studied population northeastern France. The types and the prevalence of anomalies co-occurring in cases with PRS were ascertained in all terminations of pregnancy, stillbirths and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population-based, 89 cases of PRS were registered during the study period with a prevalence of 2.29 per 10,000 births, 69.7% of the cases had associated non-PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non-chromosomal recognizable conditions were diagnosed in 27 cases (30.3%) including 10 Stickler syndrome, 8 Treacher Collins syndrome, 3 cases with short stature and 6 other syndromes. Multiple congenital anomalies (MCA) were present in 25 cases (28.1%). The most frequent MCA were in the ear, face and neck (35 out of 98 anomalies, 35.7%), cardiovascular (18 anomalies, 18.4%), musculoskeletal (11 anomalies, 11.2%), central nervous (7 anomalies, 7.1%), urinary (6 anomalies, 6.1%), and eye (6 anomalies, 6.1%) system. The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with PRS.

Keywords: airway obstruction; associated anomalies; cleft palate; glossoptosis; micrognathia; retrognathia.

MeSH terms

  • Abnormalities, Multiple* / epidemiology
  • Abnormalities, Multiple* / genetics
  • Chromosome Aberrations
  • Connective Tissue Diseases*
  • Female
  • France / epidemiology
  • Humans
  • Pierre Robin Syndrome* / epidemiology
  • Pierre Robin Syndrome* / genetics
  • Pregnancy