Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field

Ophthalmic Paediatr Genet. 1987 Jun;8(2):105-18. doi: 10.3109/13816818709028526.

Abstract

A survey of more than 500 reports on patients with autosomal chromosomal aberrations associated with microphthalmos and/or coloboma shows that these anomalies are unspecific. Anterior chamber anomalies were common as were abnormal ears, preauricular pits and tags, cleft lip-palate, micrognathia, urogenital malformations, congenital heart disease, atresia of the anus and minor malformations of the hands and feet. It is proposed that the chromosomal aberrations induce faulty development of neural crest cells and rostral neural plate derivatives.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations / classification*
  • Chromosome Aberrations / embryology
  • Chromosome Disorders
  • Coloboma / embryology
  • Coloboma / genetics*
  • Embryonic Induction
  • Humans
  • Microphthalmos / embryology
  • Microphthalmos / genetics*
  • Neural Crest / anatomy & histology
  • Phenotype