Hand involvement in 13q deletion syndrome

J Pediatr Orthop. 1999 Sep-Oct;19(5):620-3.

Abstract

Deletion in the long arm of chromosome 13 is relatively rare. Fewer than 100 cases are reported in the literature. Patients with 13q deletion have widely variable phenotypes. Hand anomalies, when present, include absent or hypoplastic thumbs, bony synostoses of the metacarpals, and brachyphalangy of the middle phalanx of the little finger. We report four cases with 13q deletion seen at our Hand Clinic.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Developmental Disabilities / genetics
  • Female
  • Fingers / abnormalities*
  • Fingers / diagnostic imaging
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Radiography