Literature DB >> 197779

Oculodentodigital dysplasia syndrome. Report of four cases.

C J Thodén, S Ryöppy, P Kuitunen.   

Abstract

Four cases of oculodentodigital dysplasia are reported. Three cases are from the same family, father and two daughers. These three cases have the characteristics typical of this disorder: narrow nose, hypoplastic alae nasi, microphthalmia, defects of the teeth, syndactylyl of the IV and V fingers, and skeletal anomalies. The fourth case differs from the earlier reported cases; he has all the typical findings of oculodentodigital dysplasia but in addition he shows features not previously reported, namely exceptionally poor vision, mental retardation, monilethrix and pili annuli changes of the hair.

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Year:  1977        PMID: 197779     DOI: 10.1111/j.1651-2227.1977.tb07960.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  4 in total

1.  Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype.

Authors:  M A Patton; K M Laurence
Journal:  J Med Genet       Date:  1985-10       Impact factor: 6.318

Review 2.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

Review 3.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

4.  Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.

Authors:  Virang Kumar; Natario L Couser; Arti Pandya
Journal:  Case Rep Ophthalmol Med       Date:  2020-04-04
  4 in total

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