Literature DB >> 6686259

Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?

J F Mattei, S Aymé.   

Abstract

Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the condition described by Váradi et al or a variant of the Mohr syndrome.

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Year:  1983        PMID: 6686259      PMCID: PMC1049175          DOI: 10.1136/jmg.20.6.433

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


  2 in total

1.  A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

Authors:  M Baraitser; J Burn; J Fixsen
Journal:  J Med Genet       Date:  1983-02       Impact factor: 6.318

2.  Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

Authors:  V Váradi; L Szabó; Z Papp
Journal:  J Med Genet       Date:  1980-04       Impact factor: 6.318

  2 in total
  4 in total

1.  Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Authors:  Andrea Poretti; Giuseppina Vitiello; Raoul C M Hennekam; Filippo Arrigoni; Enrico Bertini; Renato Borgatti; Francesco Brancati; Stefano D'Arrigo; Francesca Faravelli; Lucio Giordano; Thierry A G M Huisman; Miriam Iannicelli; Gerhard Kluger; Marten Kyllerman; Magnus Landgren; Melissa M Lees; Lorenzo Pinelli; Romina Romaniello; Ianina Scheer; Christoph E Schwarz; Ronen Spiegel; Daniel Tibussek; Enza Maria Valente; Eugen Boltshauser
Journal:  Orphanet J Rare Dis       Date:  2012-01-11       Impact factor: 4.123

2.  Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Authors:  A Verloes; A David; L Ngô; A Bottani
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

3.  Isolated congenital bifid tongue.

Authors:  Kumar L K Surej; Nikhil M Kurien; Madhu P Sivan
Journal:  Natl J Maxillofac Surg       Date:  2010-07

4.  Pentafid tongue: A new entity.

Authors:  Manesh Senan; Varun P Menon
Journal:  Indian J Plast Surg       Date:  2015 Sep-Dec
  4 in total

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