The troublesome triumvirate: Temporomandibular joint ankylosis, Pierre Robin syndrome and severe obstructive sleep apnoea

Goel, Akhil Dhanesh; Dave, Nandini; Shah, Harick; Muneshwar, Priyanka

doi:10.4103/ija.ija_741_19

Cited by 3 publications

(1 citation statement)

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“…While most patients can be managed without surgical intervention and many improve with age, a patient may become more symptomatic and the airway obstruction worsened due to the development of conditions such as temporomandibular joint ankylosis [ 23 , 46 ]. Patients presenting with an associated syndrome were more than twice as likely to require surgical intervention than isolated PR cases (53% vs. 25%) [ 23 ].…”

Section: Uncertainty Of Diagnosismentioning

confidence: 99%

Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex

Perrine

Holmes

et al. 2020

JDB

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The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated gene expression, precise cellular processes, pathogenesis, and PR-associated anomalies are documented. This review presents the current understanding of PR phenotypes, the proposed pathogenetic processes underlying them, select genes associated with PR, and available animal models that could be used to better understand the genetic basis and phenotypic variation of PR.

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Section: Uncertainty Of Diagnosismentioning

confidence: 99%