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Growth pattern in the Apert syndrome

M M Cohen1, S Kreiborg

  • 1Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.

American Journal of Medical Genetics
|October 1, 1993
PubMed
Summary
This summary is machine-generated.

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Apert syndrome presents a unique growth pattern, starting with large head size and weight at birth. Linear growth then decelerates in childhood and adulthood, leading to shorter stature.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Endocrinology
  • Craniofacial Surgery

Background:

  • Apert syndrome is a rare genetic disorder characterized by premature fusion of skull sutures and distinctive facial features.
  • Understanding the natural history of growth in Apert syndrome is crucial for clinical management and surgical planning.

Purpose of the Study:

  • To define the unique growth patterns associated with Apert syndrome from birth through adulthood.
  • To identify key anthropometric and cranial measurements that characterize Apert syndrome at different life stages.

Main Methods:

  • Longitudinal anthropometric measurements (length, weight, head circumference) of individuals with Apert syndrome.
  • Analysis of cranial configuration, including megalencephaly and coronal synostosis.

Related Experiment Videos

  • Comparison of growth trajectories with normal population centiles.

    • Main Results:

    • Newborns with Apert syndrome exhibit megalencephaly, coronal synostosis, and are typically above the 50th centile for length and weight.
    • A biphasic pattern of linear growth deceleration is observed: one in childhood and a more pronounced one in adolescence/adulthood.
    • Rhizomelic shortness of the lower limbs contributes significantly to the growth deceleration, resulting in shorter adult stature.

    Conclusions:

    • Apert syndrome is characterized by a distinct growth trajectory, including macrocephaly and biphasic growth deceleration.
    • Early identification of these growth patterns is essential for appropriate interventions and managing potential complications associated with Apert syndrome.