Introduction: Pierre Robin sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction, frequently accompanied by cleft palate. While global birth prevalence ranges from 7 to 18 per 100,000 live births, no such data exists from Southeast Asia. This study aimed to characterize the clinical profile of PRS, including classification, associated cleft types, congenital malformations, and syndromes, among patients registered at the Tawanchai Cleft Center, Khon Kaen University, Thailand.
Materials and Methods: A retrospective hospital-based study was conducted using the Tawanchai Cleft Center registry, Khon Kaen University, Thailand. Patients with confirmed PRS (ICD-10: Q87.0) born between 2018 and 2023 were included. Cases were classified as isolated PRS, PRS-plus (associated anomalies without a defined syndrome), or syndromic PRS. Associated congenital malformations were categorized by organ systems using ICD-10 coding. Descriptive statistics were used for data analysis.
Results: Forty-one PRS cases were identified (27 female; 65.9%). Cleft palate was present in 97.6% of cases, most commonly cleft of the hard and soft palate (Q35.5; 43.9%) and cleft of the soft palate only (Q35.3; 41.5%). Cases were classified as isolated PRS (46.3%), PRS-plus (41.5%), and syndromic PRS (12.2%). Associated syndromes included Treacher Collins, Stickler, 22q11.2 deletion, and Glass (SATB2-associated) syndromes, along with chromosomal abnormality. Associated congenital malformations were identified in 51.2% of cases, most frequently involving musculoskeletal (22.0%), circulatory (14.6%), and digestive systems (12.2%). The most common specific malformations were cardiac septal defects (Q21; 23.5%), head and face deformities (Q67; 23.5%), and laryngeal malformations (Q31; 17.6%).
Conclusion: PRS cases in this Thai tertiary cleft center demonstrated a high proportion of associated congenital malformations and syndromic diagnoses. These findings represent the first clinical profile of PRS from Thailand, underscoring the importance of comprehensive multidisciplinary evaluation and systematic registry-based surveillance in Southeast Asia.