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Developmental and genetic perspectives on Pierre Robin sequence

Authors

  • Tiong Yang Tan,

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    • Tiong Yang Tan is a clinical geneticist and has completed a PhD that focused on the characterization of genes involved in craniofacial development and micro-deletion syndromes. His research interest is in understanding the developmental processes perturbed in human dysmorphology syndromes.
  • Nicky Kilpatrick,

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    • Nicky Kilpatrick is a paediatric dentist with a PhD in biomaterials research. Her research focusses on optimising oral and general health outcomes for children with oral and craniofacial conditions including cleft lip and palate.
  • Peter G. Farlie

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    • Peter Farlie completed a PhD in developmental biology. His research focuses on the mechanisms of morphogenesis and the early developmental events that underpin a range of birth defects, particularly those affecting the craniofacial complex.

Correspondence to: Peter G. Farlie, Murdoch Childrens Research Institute—Craniofacial Development, Royal Children's Hospital Flemington Rd Royal Children's Hospital, Parkville, Victoria 3052, Australia. E-mail peter.farlie@mcri.edu.au

Abstract

Pierre Robin sequence (PRS) is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate and glossoptosis leading to life-threatening obstructive apnea and feeding difficulties during the neonatal period. The respiratory issues require careful management and in severe cases may require extended stays in neonatal intensive care units and surgical intervention such as lengthening the lower jaw or tracheotomy to relieve airway obstruction. These feeding and respiratory complications frequently continue well into childhood, affecting not only growth and development but also impacting on long term educational attainment. The diagnosis of PRS depends on readily recognizable clinical features but the phenotypic similarity of many PRS individuals conceals considerable etiological heterogeneity. Defects in the growth of the mandible sit at the core of PRS and the natural history of PRS can be classified into two major streams: primary defects of mandibular outgrowth and elongation and issues that are external to the mandibular skeleton but that secondarily impact on its growth. These altered developmental trajectories appear to be driven by a range of influences including defects in cartilage growth, neuromuscular function and fetal constraint. Various genetic and cytogenetic associations have been made with PRS and the diversity of these associations highlights the fact that there are numerous ways to arrive at this common phenotypic endpoint. © 2013 Wiley Periodicals, Inc.

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