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Case report on SHORT syndrome.

S H Joo1, M Raygada, S Gibney

  • 1Department of Pediatrics, Georgetown University Children's Medical Center, Washington, DC 20007, USA.

Clinical Dysmorphology
|August 24, 1999
PubMed
Summary

The SHORT syndrome is a rare genetic disorder characterized by short stature and other distinctive features. This report details the twentieth identified case, highlighting growth retardation and hearing loss.

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Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • The SHORT syndrome is a rare genetic disorder defined by a specific pattern of features.
  • Key characteristics include Short stature, Hyperextensibility of joints/inguinal Hernia, Ocular depression, Rieger anomaly, and Teething delay.
  • Other associated features encompass intrauterine growth retardation, dysmorphic facial features, and metabolic abnormalities.

Observation:

  • This study presents the twentieth reported case of SHORT syndrome.
  • The patient exhibited significant growth retardation and sensorineural hearing loss.
  • Minor dysmorphic features consistent with the syndrome were also noted.

Findings:

  • The twentieth patient's presentation aligns with the established phenotype of SHORT syndrome.

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  • The case reinforces the diagnostic criteria and clinical spectrum of this rare condition.
  • Early identification of growth and hearing issues is crucial for management.

    • Implications:

    • This case contributes to the understanding of SHORT syndrome's prevalence and clinical variability.
    • It underscores the importance of recognizing the constellation of symptoms for timely diagnosis.
    • Further research may elucidate the genetic underpinnings and long-term outcomes for affected individuals.