Literature DB >> 1776653

On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.

M Muenke1, E D Ruchelli, L B Rorke, D M McDonald-McGinn, M K Orlow, A Isaacs, F J Craparo, L K Dunn, E H Zackai.   

Abstract

The three midline malformation complexes, the oral-facial-digital syndrome type VI (OFDS VI) or Váradi syndrome, the hydrolethalus syndrome (HS), and the Pallister-Hall syndrome (PHS) have been described as distinct genetic entities. Here, we report a fetus with a combination of clinical findings of all 3 syndromes similar to the twin fetuses described in the accompanying paper (Hingorani et al., 1991). The phenotypic overlap in these fetuses with the OFDS VI, HS, and PHS raises the question as to whether or not they indeed represent separate genetic entities as previously assumed.

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Mesh:

Year:  1991        PMID: 1776653     DOI: 10.1002/ajmg.1320410436

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


  4 in total

1.  Pallister-Hall syndrome.

Authors:  L G Biesecker; J M Graham
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Authors:  Jennifer J Johnston; Julie C Sapp; Joyce T Turner; David Amor; Salim Aftimos; Kyrieckos A Aleck; Maureen Bocian; Joann N Bodurtha; Gerald F Cox; Cynthia J Curry; Ruth Day; Dian Donnai; Michael Field; Ikuma Fujiwara; Michael Gabbett; Moran Gal; John M Graham; Peter Hedera; Raoul C M Hennekam; Joseph H Hersh; Robert J Hopkin; Hülya Kayserili; Alexa M J Kidd; Virginia Kimonis; Angela E Lin; Sally Ann Lynch; Melissa Maisenbacher; Sahar Mansour; Julie McGaughran; Lakshmi Mehta; Helen Murphy; Margarita Raygada; Nathaniel H Robin; Alan F Rope; Kenneth N Rosenbaum; G Bradley Schaefer; Amy Shealy; Wendy Smith; Maria Soller; Annmarie Sommer; Heather J Stalker; Bernhard Steiner; Mark J Stephan; David Tilstra; Susan Tomkins; Pamela Trapane; Anne Chun-Hui Tsai; Margot I Van Allen; Pradeep C Vasudevan; Bernhard Zabel; Janice Zunich; Graeme C M Black; Leslie G Biesecker
Journal:  Hum Mutat       Date:  2010-10       Impact factor: 4.878

3.  Recurrence of Pallister-Hall syndrome in two sibs.

Authors:  H M Thomas; P J Todd; D Heaf; A E Fryer
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

4.  Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Authors:  I Visapää; R Salonen; T Varilo; P Paavola; L Peltonen
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

  4 in total

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