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Related Experiment Videos

Noonan syndrome: a case report.

T Nirmal1, M S Muthu, P Arranganal

  • 1Department of Paediatric and Preventive Dentistry, Sri Ramachandra Dental College And Hospital, Chennai.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
|November 6, 2001
PubMed
Summary

Ullrich-Turner Syndrome (UTS), typically affecting females, involves short stature and sexual infantilism. A rare case of Noonan Syndrome, a similar condition, is presented in a young boy.

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Ullrich-Turner Syndrome (UTS) was initially described in females with characteristic features like short stature and sexual infantilism.
  • UTS is genetically linked to monosomy X or structural abnormalities of the X chromosome.
  • Noonan syndrome shares some clinical features with UTS but has a different genetic basis.

Observation:

  • A case of Noonan Syndrome is presented in a four-and-a-half-year-old boy.
  • The patient exhibited features consistent with Noonan Syndrome.

Findings:

  • This case highlights the occurrence of Noonan Syndrome in a male patient.
  • The presentation in a boy underscores the diverse clinical manifestations of this genetic disorder.

Implications:

  • This case expands the understanding of Noonan Syndrome's presentation in pediatric males.
  • Further research into the genetic underpinnings and clinical spectrum of Noonan Syndrome is warranted.
  • Accurate diagnosis and management of Noonan Syndrome are crucial for affected children.

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