Literature DB >> 3113318

Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly.

R M Liberfarb, O P Abdo, R C Pruett.   

Abstract

A one-year-old boy presented with findings of ocular colobomas and staphylomas in both eyes. He also had a single central incisor and growth failure. His mother had hyposmia. We think that the patient and his mother represent the mild end of the spectrum of autosomal dominant holoprosencephaly.

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Mesh:

Year:  1987        PMID: 3113318

Source DB:  PubMed          Journal:  Ann Ophthalmol        ISSN: 0003-4886


  3 in total

1.  Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system.

Authors:  M Hallonet; T Hollemann; T Pieler; P Gruss
Journal:  Genes Dev       Date:  1999-12-01       Impact factor: 11.361

2.  Microphthalmia with single central incisor and hypopituitarism.

Authors:  H G Artman; E Boyden
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

Review 3.  Solitary median maxillary central incisor (SMMCI) syndrome.

Authors:  Roger K Hall
Journal:  Orphanet J Rare Dis       Date:  2006-04-09       Impact factor: 4.123

  3 in total

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