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[The Johanson-Blizzard syndrome]

M Dumić1, J Ille, G Bobonj

  • 1Klinika za pedijatriju Rebro, Medicinskog fakulteta Sveucilista u Zagrebu.

Lijecnicki Vjesnik
|September 28, 1998
PubMed
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This case report details a 17-year-old boy with Johanson-Blizzard syndrome, highlighting novel associated symptoms. The findings expand the known clinical spectrum of this rare genetic disorder.

Area of Science:

  • Genetics and Rare Diseases
  • Pediatric Case Reports
  • Endocrinology

Background:

  • Johanson-Blizzard syndrome is a rare autosomal recessive disorder.
  • It is characterized by specific craniofacial anomalies, intellectual disability, and pancreatic insufficiency.

Observation:

  • A 17-year-old male patient presented with a constellation of features consistent with Johanson-Blizzard syndrome.
  • Key features included microcephalia, parietal defects, sparse hair, alae nasi hypoplasia, dental irregularities, and nasolacrimal fistula.

Findings:

  • The patient exhibited mental insufficiency, partial exocrine pancreatic insufficiency, and failure to thrive.
  • Notably, congenital cataract and hiatus sacralis apertus were observed, representing new findings for this syndrome.

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Implications:

  • This case expands the phenotypic spectrum of Johanson-Blizzard syndrome.
  • It underscores the importance of comprehensive evaluation in diagnosing rare genetic conditions.
  • Further research is warranted to understand the genetic basis of these additional manifestations.