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[Di George syndrome].

P Urrejola1, A Cattani, F Heusser

  • 1Departamento de Pediatría, Escuela de Medicina, Universidad Católica de Chile.

Revista Chilena De Pediatria
|November 1, 1991
PubMed
Summary
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This study presents two Di George syndrome cases, highlighting partial forms with varied cardiac and hypocalcemic symptoms. One patient survived with hypoparathyroidism, while the other succumbed to severe cardiac defects.

Area of Science:

  • Genetics
  • Pediatrics
  • Immunology

Background:

  • Di George syndrome, a condition caused by a 22q11.2 chromosomal deletion, presents with a spectrum of clinical manifestations.
  • Early diagnosis and management are crucial for improving outcomes in affected individuals.

Observation:

  • Two patients diagnosed with Di George syndrome at 4 months and 16 days old exhibited distinct clinical features.
  • Key symptoms included hypocalcemic convulsions, characteristic facial anomalies (e.g., hypertelorism, micrognathia), and significant cardiac malformations.

Findings:

  • One patient presented with a vascular ring and hypoparathyroidism, surviving with repaired cardiac defects and no immunodeficiency.
  • The second patient had Tetralogy of Fallot with pulmonary atresia, leading to death at 16 days, with necropsy revealing absent parathyroid glands and a normal thymus.

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Implications:

  • These cases suggest the existence of partial Di George syndrome phenotypes, emphasizing the variability of the condition.
  • Understanding these variations is vital for accurate diagnosis, tailored treatment strategies, and genetic counseling.