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.
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.
Muenke
M
M
Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, PA 19104.
Ruchelli
E D
ED
Rorke
L B
LB
McDonald-McGinn
D M
DM
Orlow
M K
MK
Isaacs
A
A
Craparo
F J
FJ
Dunn
L K
LK
Zackai
E H
EH
D000015:Abnormalities, Multiple / Q000235:genetics*; D004413:Dysostoses / Q000150:complications* / Q000235:genetics; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000235:genetics; D008297:Male; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000150:complications* / Q000235:genetics; D010641:Phenotype; D013577:Syndrome