Literature DB >> 2929654

Orofaciodigital syndrome type IV: report of a patient.

N C Nevin1, P S Thomas.   

Abstract

We describe a further patient with the orofaciodigital syndrome type IV. The clinical characteristics include lobulated tongue, pseudo-cleft of lip, pre- and postaxial polydactyly of hands and feet, severe talipes equinovarus, mesomelic limb shortness associated with tibial hypoplasia, and severe bilateral deafness. Five similar cases including the present patient are now on record. Autosomal recessive inheritance is likely.

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Year:  1989        PMID: 2929654     DOI: 10.1002/ajmg.1320320202

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.

Authors:  P Meinecke; H Hayek
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

2.  Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

3.  Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome).

Authors:  Meltem Ozdemir-Karatas; Didem Ozdemir-Ozenen; P Suzanne Hart; Thomas C Hart
Journal:  Case Rep Dent       Date:  2014-12-21

4.  Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

Authors:  Arjan Bouman; Mariëlle Alders; Roelof Jan Oostra; Elisabeth van Leeuwen; Nikki Thuijs; Anne-Marie van der Kevie-Kersemaekers; Merel van Maarle
Journal:  Am J Med Genet A       Date:  2017-04-03       Impact factor: 2.802

  4 in total

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