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
Hauptverfasser: Mueneke, M, Ruchelli, ED, Rorke, L B, McDonald-McGinn, D M, Orlow, M K, Isaacs, A, Craparo, F J, Dunn, L K, Zackai, E H
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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.
ISSN:0148-7299