Int J Stomatol ›› 2023, Vol. 50 ›› Issue (3): 287-292.doi: 10.7518/gjkq.2023032

• Cleft Lip and Palate • Previous Articles     Next Articles

Review of the precise diagnosis and genetic etiology of Pierre Robin sequence

Xia Weiyao1(),Luo Yankun1,Jia Zhonglin2()   

  1. 1.State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & West China School of Stomatology, Sichuan University, Chengdu 610041, China
    2.State Key Laboratory of Oral Diseases & Natio-nal Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomato-logy, Sichuan University, Chengdu 610041, China
  • Received:2022-08-20 Revised:2022-11-16 Online:2023-05-01 Published:2023-05-16
  • Contact: Zhonglin Jia E-mail:xwy20000615@163.com;zhonglinjia@sina.com
  • Supported by:
    General Program of National Natural Science Foundation of China(82170919)

Abstract:

Pierre Robin sequence is a congenital craniofacial anomaly with strong genetic heterogeneity. It mainly mani-fests as micrognathia, retrognathia and cleft palate. Its major pathogenic genes include SRY-box transcription factor 9 (SOX9), potassium inwardly rectifying channel subfamily J member 2 (KCNJ2), distal-less homeobox 5/6 (DLX5/6), leukocyte antigen related receptor protein tyrosine phosphatases (LAR RPTPs), and bone morphogenetic protein 2 (BMP2). Prenatal imaging focuses on micrognathia. However, the position and shape of the tongue in utero may also contribute to the diagnosis of this anomaly. This paper mainly reviews the clinical manifestations, genetic etiology and diagnosis of this sequence sign to clarify its etiology and pathogenesis, guide its prenatal imaging, and provide support for its precise diagnosis of this disease.

Key words: Pierre Robin sequence, congenital craniofacial anomalies, pathogenic gene, prenatal diagnosis

CLC Number: 

  • R 782.2

TrendMD: 
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