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Colobomata associated with Noonan's syndrome.

L Kleanthous1, D Cruz, E D'Graham

  • 1University College Hospital, London, UK.

Postgraduate Medical Journal
|July 1, 1987
PubMed
Summary

This report details the first known case of Noonan syndrome associated with fundal colobomata. Early recognition of this rare combination is crucial for timely diagnosis and management of associated health issues.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Noonan syndrome is a genetic disorder with diverse clinical manifestations.
  • Ocular abnormalities are common in Noonan syndrome, but fundal colobomata are rarely reported.

Observation:

  • A patient presented with Noonan syndrome and bilateral fundal colobomata.
  • The patient experienced vision impairment from childhood and dyspnea on exertion in adolescence.

Findings:

  • This case represents the first documented association between Noonan syndrome and fundal colobomata.
  • Delayed diagnosis of Noonan syndrome occurred despite early-onset symptoms.

Implications:

  • Highlights the importance of considering fundal colobomata in the ophthalmological evaluation of Noonan syndrome patients.
  • Emphasizes the need for earlier recognition of Noonan syndrome, even with atypical presentations, to improve patient outcomes.

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