Article
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.
American journal of medical genetics - 15 Dec 1991
Muenke M, Ruchelli E D, Rorke L B, McDonald-McGinn D M, Orlow M K, Isaacs A, Craparo F J, Dunn L K, Zackai E H
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Dysostoses
- Fetus
- Humans
- Hydrocephalus
- Male
- Orofaciodigital Syndromes
- Phenotype
- Syndrome