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Related Experiment Videos

Multiple pterygium syndrome.

F F Ozkinay1, C Ozkinay, H Akin

  • 1Ege University, Faculty of Medicine, Department of Pediatrics, Bornova, Izmir, Turkey.

Indian Journal of Pediatrics
|January 1, 1997
PubMed
Summary

A child with Multiple Pterygium Syndrome (Escobar) presented with optic atrophy, a previously undocumented symptom. This case highlights a new potential complication of this rare genetic disorder.

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Area of Science:

  • Medical Genetics
  • Ophthalmology
  • Pediatric Rare Diseases

Background:

  • Multiple Pterygium Syndrome (Escobar) is a rare autosomal recessive disorder characterized by congenital joint contractures, pterygia, and distinctive facial features.
  • The syndrome's known manifestations include skeletal abnormalities, cardiovascular defects, and urogenital anomalies.

Observation:

  • A female child diagnosed with Escobar Multiple Pterygium Syndrome exhibited typical clinical features.
  • These included multiple pterygia, a characteristic facial appearance, and genital anomalies.
  • Additionally, the patient presented with bilateral optic atrophy.

Findings:

  • This report details the first documented case of optic atrophy in a patient with Multiple Pterygium Syndrome (Escobar).
  • The presence of bilateral optic atrophy represents a novel finding in the spectrum of this syndrome's clinical presentation.

Implications:

  • The inclusion of optic atrophy expands the known clinical spectrum of Multiple Pterygium Syndrome (Escobar).
  • This finding may necessitate ophthalmological screening in affected individuals.
  • Further research is warranted to understand the pathophysiology and prevalence of optic atrophy in this syndrome.

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