Orthodontic Treatment of a Patient with Stickler Syndrome

Abstract

Stickler syndrome (MIM 108300, 604841, 184840) is an autosomal dominant disease characterized by midfacial flattening and variable disorders of vision, hearing and articulation. There are three types of the syndrome caused by mutations in different genes (type 1, COL2A1; type 2, COL11A1; and type 3, COL11A2). About 20% of type 1 patients have cleft palate or bifid uvula, but there have been no case reports of orthodontic treatment of this syndrome so far. The Japanese female patient presented here with Stickler syndrome was characterized by a flat midface and had high myopia, sensorineural hearing loss, enlarged joints, and cleft of the soft palate. She had fairly small SNA and SNB angles and a steep mandibular plane with an enlarged gonial angle. The incisors of both arches were retroclined, and a large overjet and overbite were noted. Orthodontic treatment was initiated at 11 years of age using a lingual arch appliance followed by an edgewise multibracket appliance. Stable functional occlusion was obtained after the treatment. Most of the other seven Stickler syndrome patients exhibited pretreatment characteristics of small SNA and SNB angles, steep mandibular planes, enlarged gonial angles, and retroclined incisors of both arches, demonstrating the characteristic skeletal and occlusal features of this syndrome.

Screening for Obstructive Sleep Apnea and Associated Risk Factors in Adolescents and Adults With Isolated Robin Sequence

“…5,7,8,30 As the presented evidence suggest retrognathia seems to be related with a high risk for OSA in individuals with IRS that reached skeletal maturity, despite the majority of them seemed to achieve a resolution of the maxillomandibular discrepancy and of airway obstruction. 6,26,27 In the present study, there was an association of high risk for OSA with nasal obstruction, nasal secretion, reduced sense of smell, frequent use of nasal decongestants, and mouth breathing (P ≤ .05). However, these associations were not confirmed through multiple regression model via ordinary least squares using risk for OSA as the dependent variable.…”

“…However, it is estimated that neurodevelopmental changes in respiratory control, upper airway changes, and craniofacial growth potential should contribute to a resolution of OSA across the lifespan. 5,26–28…”

“…5,7,8,30 As the presented evidence suggest retrognathia seems to be related with a high risk for OSA in individuals with IRS that reached skeletal maturity, despite the majority of them seemed to achieve a resolution of the maxillomandibular discrepancy and of airway obstruction. 6,26,27…”

“…However, it is estimated that neurodevelopmental changes in respiratory control, upper airway changes, and craniofacial growth potential should contribute to a resolution of OSA across the lifespan. 5,[26][27][28] Two aspects are seen as the studies evaluated school-aged children and young adults with IRS. First, there is a trend of OSA prevalence decrease in the first years of life.…”

Atypical findings in three patients with Pai syndrome and literature review

“…Bifid uvula represents 59% of submucous cleft palate [Reiter et al, 2011]. It is present in more than 100 syndromes including Loeys–Dietz syndrome, craniosynostosis syndromes (Apert, Crouzon, and Saethre–Chotzen), Stickler syndrome, Van der Woude syndrome, Rapp–Hodgkin syndrome, Kabuki syndrome, and various microdeletion syndromes including microdeletion 22q11 [Kreiborg and Cohen, 1992; McDonald‐McGinn et al, 1999; Kim and Shin, 2004; Schrander‐Stumpel et al, 2005; Loeys et al, 2006; Suda et al, 2007; de Lima et al, 2009; Stoler et al, 2009]. Association of bifid uvula and congenital nasal polyp has never been reported before.…”