Literature DB >> 220941

Oculodentodigital dysplasia. Four new reports and a literature review.

G F Judisch, A Martin-Casals, J W Hanson, W H Olin.   

Abstract

Four new patients with oculodentodigital dysplasia (ODD) have been examined. The salient and fairly constant features of ODD appear to be (1) unique facial appearance, (2) microcornea with other inconstant ocular findings, (3) syndactyly of the hands with additional characteristic phalangeal aberrations, (4) diffuse skeletal dysplasia, (5) enamel dysplasia, and (6) trichosis. Echographic studies indicate that ODD globes have microcornea with otherwise normal dimensions. An increased number of vessels crossing the optic discs was observed in three patients from one family. The distance between the inner canthi and the medial orbital walls in three patients we studied suggests that previous reports of hypertelorism may have been illusions resulting from microcornea, small palpebral fissures, and variably present epicanthus.

Entities:  

Mesh:

Year:  1979        PMID: 220941     DOI: 10.1001/archopht.1979.01020010436007

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  23 in total

1.  A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

Authors:  R J Richardson; S Joss; S Tomkin; M Ahmed; E Sheridan; M J Dixon
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

2.  Oculodental digital dysplasia: neuroimaging in a kindred.

Authors:  L E Ginsberg; T Jewett; R Grub; W T McLean
Journal:  Neuroradiology       Date:  1996-01       Impact factor: 2.804

Review 3.  Gap junctions in inherited human disorders of the central nervous system.

Authors:  Charles K Abrams; Steven S Scherer
Journal:  Biochim Biophys Acta       Date:  2011-08-16

4.  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 5.  Classification of microphthalmos and coloboma.

Authors:  M Warburg
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

Review 6.  Craniotubular bone disorders.

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

7.  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

8.  The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.

Authors:  Radoslaw Dobrowolski; Philipp Sasse; Jan W Schrickel; Marcus Watkins; Jung-Sun Kim; Mindaugas Rackauskas; Clemens Troatz; Alexander Ghanem; Klaus Tiemann; Joachim Degen; Feliksas F Bukauskas; Roberto Civitelli; Thorsten Lewalter; Bernd K Fleischmann; Klaus Willecke
Journal:  Hum Mol Genet       Date:  2007-11-13       Impact factor: 6.150

9.  A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation.

Authors:  Momoko Himi; Takuro Fujimaki; Toshiyuki Yokoyama; Keiko Fujiki; Toshiaki Takizawa; Akira Murakami
Journal:  Jpn J Ophthalmol       Date:  2009-10-22       Impact factor: 2.447

10.  A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Authors:  A Jamsheer; M Wisniewska; A Szpak; G Bugaj; M R Krawczynski; B Budny; A Wawrocka; A Latos-Bieleńska
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

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