A Familial Case Study Exploring Craniofacial, Velopharyngeal, and Speech Variations in Pierre Robin Sequence

Abstract

Pierre Robin sequence (PRS) describes a pattern of features present in an individual initially caused by underdevelopment of the mandible in utero [1]. This can lead to other features such as glossoptosis, cleft palate, feeding and breathing difficulties, and failure to thrive [2]. The incidence reported varies from 1:8,500 to 1:14,000 live births [3]. PRS may occur in isolation, but it is part of an underlying disorder or syndrome in approximately 50% of cases [4]. It is most commonly associated with Stickler syndrome [5], being diagnosed in 18-35% of individuals with PRS [4,6,7]. Stickler syndrome is a connective tissue disorder that can be associated with distinctive craniofacial features, eye problems, hearing impairment, mitral valve prolapse, and various skeletal and joint findings [4,8]. However, Stickler syndrome demonstrates wide variability in features leading to delayed or missed diagnoses in milder cases, even among individuals in the same family [8-10]. Despite variable expressivity, Stickler syndrome is completely penetrant. Three types of Stickler syndrome have been described based on collections of represented features. A diagnosis of Stickler syndrome is made clinically. Consensus has not been achieved on diagnostic criteria. However, non-validated criteria have been established for type 1 Stickler syndrome, which includes the presence of features, family history, and known pathogenic variants in autosomal A descriptive, prospective case study design was used to describe craniofacial, velopharyngeal, and speech measures of three siblings with a family history of Stickler syndrome. Two of the siblings had Pierre Robin sequence and cleft palate. All participants underwent nasometry, perceptual resonance rating, speech sound analysis, and magnetic resonance imaging. The child with a history of compensatory articulation errors showed notable differences in velopharyngeal function and medical history, as well as craniofacial and velopharyngeal dimensions when compared to siblings without a history of these speech errors. Further analysis of velopharyngeal and speech measures should be performed using a larger sample size within this population.