On lumping and splitting: A fetus with clinical finding of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome
The three midline malformation complexes, the oral-facial-digital syndrome type VI (OFDS VI) or Varadi syndrome, the hydrolethalus syndrome (HS), and the Pallister-Hall syndrome (PHS) have been described as distinct genetic entities. We report a fetus with a combination of clinical findings of all 3...
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Veröffentlicht in: | American journal of medical genetics 1991-01, Vol.41 (4), p.548-556 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | The three midline malformation complexes, the oral-facial-digital syndrome type VI (OFDS VI) or Varadi syndrome, the hydrolethalus syndrome (HS), and the Pallister-Hall syndrome (PHS) have been described as distinct genetic entities. We report a fetus with a combination of clinical findings of all 3 syndromes. The phenotypic overlap in these fetuses with the OFDS VI, HS, and PHS raises the questions as to whether or not they indeed represent separate genetic entities as previously assumed. |
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ISSN: | 0148-7299 |