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Defining mandibular morphology in Robin sequence: A matched case-control study.

Srinivas M Susarla1,2,3, Nefeli Vasilakou1, Hitesh Kapadia1

  • 1Seattle Children's Craniofacial Center, Seattle, Washington.

American Journal of Medical Genetics. Part A
|April 14, 2017
PubMed
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This summary is machine-generated.

Robin Sequence (RS) involves micrognathia, with this study finding distinct mandibular shape differences in affected infants. These measurable differences in mandible morphology may help define Robin Sequence.

Area of Science:

  • Craniofacial morphology
  • Pediatric genetics
  • Medical imaging analysis

Background:

  • Robin Sequence (RS) is characterized by micrognathia, glossoptosis, and airway obstruction.
  • Micrognathia is a consistent feature of RS, though diagnostic criteria for severity vary.
  • Objective analysis of mandibular morphology in RS is crucial for diagnosis and understanding the condition.

Purpose of the Study:

  • To compare mandibular morphology in infants and children with RS versus controls using maxillofacial computed tomography.
  • To identify discrete and measurable differences in RS mandible shape.
  • To establish if specific mandibular morphologic features can define Robin Sequence.

Main Methods:

  • Maxillofacial computed tomography (CT) scans of 20 infants/children with RS and 20 age/sex-matched controls were analyzed.
Keywords:
Robin sequencemandibular morphologymicrognathia

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  • Linear, angular, and composite measurements of mandibular shape were obtained.
  • Statistical analysis compared morphometric parameters between RS and non-RS groups.

    • Main Results:

    • Patients with RS exhibited significantly shorter mandibular sagittal lengths (-27%) and inferior border arc lengths (-11.5%).
    • Steeper gonial angles (+10.5%) and narrower symphyseal angles (-11.5%) were observed in RS cases.
    • RS mandibles showed a more rounded/elliptical shape and a smaller submental cross-sectional area (-29.4%).

    Conclusions:

    • Distinct, measurable mandibular shape differences exist between infants with RS and controls.
    • These morphologic variations, particularly anterior to the gonial angle, appear to be defining features of Robin Sequence.
    • CT-based morphometric analysis offers a valuable tool for diagnosing and characterizing RS.