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Dysmorphic features in patients with complex glycerol kinase deficiency

A Scheuerle1, F Greenberg, E R McCabe

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

The Journal of Pediatrics
|May 1, 1995
PubMed
Summary

Complex glycerol kinase deficiency, a contiguous gene syndrome, presents with distinct facial features. Early diagnosis through laboratory tests is crucial for this treatable condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Complex glycerol kinase deficiency is a contiguous gene syndrome.
  • It involves deletions in the glycerol kinase locus, potentially affecting adjacent genes.

Observation:

  • Describes an infant with complex glycerol kinase deficiency.
  • The infant exhibited mildly dysmorphic facial features.
  • Features included an "hourglass" midface, hypertelorism, rounded palpebral fissures, esotropia, wide/flattened earlobes, and a downturned mouth.

Findings:

  • The study details the clinical presentation of complex glycerol kinase deficiency.
  • Characteristic facial features are associated with the syndrome.
  • Highlights the importance of recognizing these features for diagnosis.

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Implications:

  • Early identification of complex glycerol kinase deficiency is possible through recognizing specific facial features.
  • Prompt laboratory testing can lead to timely diagnosis.
  • This condition is potentially treatable, emphasizing the need for early intervention.