Literature DB >> 2157843

Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?

L A Brueton1, S M Huson, B Farren, R M Winter.   

Abstract

A family is described with type III syndactyly and facies resembling the oculodentodigital dysplasia facial phenotype in the absence of any of the other characteristic findings of the latter condition. The relationship between type III syndactyly and oculodentodigital dysplasia is discussed.

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Year:  1990        PMID： 2157843      PMCID： PMC1016999          DOI： 10.1136/jmg.27.3.169

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Syndactyly of the ring and little finger.

Authors:  O JOHNSTON; V V KIRBY
Journal:  Am J Hum Genet       Date:  1955-03       Impact factor: 11.025

2.  [The microphthalmos syndrome].

Authors:  G MEYER-SCHWICKERATH; E GRUTERICH; H WEYERS
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3.  A case of syndactylism of the ring and little fingers.

Authors:  A T COLLETTE
Journal:  Am J Hum Genet       Date:  1954-06       Impact factor: 11.025

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Authors:  G J Kurlander; N W Lavy; J A Campbell
Journal:  Radiology       Date:  1966-01       Impact factor: 11.105

5.  The oculo-dento-digital dysplasia syndrome.

Authors:  H S Sugar; J P Thompson; J D Davis
Journal:  Am J Ophthalmol       Date:  1966-06       Impact factor: 5.258

6.  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

7.  The question of hypertelorism in oculodentoosseous dysplasia.

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Journal:  Am J Med Genet       Date:  1981

8.  Familial translocation t(8;14) with a case of tertiary trisomy, +14q-.

Authors:  D Soudek; P Hunter; S O'Shaughnessy; N E Simpson; V Soudek
Journal:  Birth Defects Orig Artic Ser       Date:  1978

9.  Oculodentodigital dysplasia. Four new reports and a literature review.

Authors:  G F Judisch; A Martin-Casals; J W Hanson; W H Olin
Journal:  Arch Ophthalmol       Date:  1979-05
  9 in total
  5 in total

1.  A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

Authors:  X Huang; N Wang; X Xiao; S Li; Q Zhang
Journal:  Eye (Lond)       Date:  2015-05-15       Impact factor: 3.775

Review 2.  Craniotubular bone disorders.

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

3.  Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family.

Authors:  Sumaira Nishat; Qaisar Mansoor; Amara Javaid; Muhammad Ismail
Journal:  J Dermatol Case Rep       Date:  2012-06-30

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

5.  Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

Authors:  John J Kelly; Jessica L Esseltine; Qing Shao; Ethylin Wang Jabs; Jacinda Sampson; Mari Auranen; Donglin Bai; Dale W Laird
Journal:  Mol Biol Cell       Date:  2016-05-25       Impact factor: 4.138
  5 in total

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