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Related Experiment Videos

Upper limb malformations in DiGeorge syndrome

V Cormier-Daire1, L Iserin, D Théophile

  • 1Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.

American Journal of Medical Genetics
|March 13, 1995
PubMed
Summary
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DiGeorge sequence, characterized by heart defects and developmental issues, can include rare upper limb anomalies like polydactyly and club hands. These findings highlight the diverse genetic expression of 22q11 deletions.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Cardiology

Background:

  • DiGeorge sequence is a complex genetic disorder associated with a 22q11 deletion.
  • It typically presents with conotruncal heart defects, hypocalcemia, thymic aplasia, and characteristic facial anomalies.
  • The phenotypic variability of 22q11 deletion syndrome is well-documented.

Observation:

  • Two pediatric patients with complete DiGeorge sequence were evaluated.
  • One patient exhibited preaxial polydactyly of the upper limb.
  • The second patient presented with club hands, including a hypoplastic first metacarpal.

Findings:

  • Molecular analysis confirmed a 22q11 deletion in both children.
  • The observed limb anomalies, polydactyly and club hand, are uncommon manifestations in DiGeorge syndrome.

Related Experiment Videos

  • This case series expands the known spectrum of clinical features associated with 22q11 deletions.

    • Implications:

    • The study underscores the importance of recognizing limb anomalies as a potential, albeit rare, feature of DiGeorge sequence.
    • These findings contribute to a better understanding of the genotype-phenotype correlations in 22q11 deletion syndrome.
    • Increased awareness may aid in earlier diagnosis and comprehensive management of affected individuals.