Infant with multiple congenital anomalies and deletion (9)(q34.3)

Am J Med Genet. 1994 Jun 1;51(2):140-2. doi: 10.1002/ajmg.1320510211.


We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 9*
  • Developmental Disabilities / genetics
  • Humans
  • Infant
  • Karyotyping
  • Male