Infantile hypertrophic pyloric stenosis and asymptomatic joint hypermobility

C De Felice1, G Di Maggio, P Toti

  • 1Department of Preventive Pediatrics and Neonatology, Institute of General Surgery and Surgical Specialties, University of Siena, Siena, Italy.

Insights

Children with infantile hypertrophic pyloric stenosis often have joint hypermobility, a finding also seen in their parents. This suggests a potential systemic extracellular matrix issue.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatrics
  • Rheumatology

Background:

  • Infantile hypertrophic pyloric stenosis (IHPS) is a congenital condition affecting the pylorus.
  • Joint hypermobility is a condition characterized by excessive range of motion in joints.

Purpose of the Study:

  • To investigate the association between infantile hypertrophic pyloric stenosis and joint hypermobility.
  • To explore potential underlying systemic connective tissue abnormalities.

Main Methods:

  • Observational study involving 37 children with a history of IHPS and their parents.
  • Assessment of joint hypermobility and frequency of absent mandibular frenulum.

Main Results:

  • A significant association was found between IHPS and asymptomatic joint hypermobility in children (P =.0016).
  • Joint hypermobility was also prevalent in the parents of affected children (mothers, P <.0001; fathers, P <.05).
  • Subjects with joint hypermobility had a higher frequency of absent mandibular frenulum.

Conclusions:

  • Asymptomatic joint hypermobility is significantly associated with infantile hypertrophic pyloric stenosis.
  • The findings suggest a potential, previously unrecognized systemic abnormality of the extracellular matrix in affected individuals.
  • Absent mandibular frenulum may be a marker for this underlying connective tissue disorder.

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