Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.
The oral-facial-digital syndromes (OFDS) have in common minor facial and oral anomalies (including tongue lobulation and/ or hamartomas, accessory frenula, and alveolar anomalies) and variable digital defects such as polydactyly. The classification based on the presence of additional findings [Toriello, 1988, 1993] is not perfect, as many reported examples of a particular OFDS have some other condition. Here we describe six children, all diagnosed as having OFDS IV (OFDS with tibial defects), whose manifestations illustrate the apparent genetic heterogeneity.
Toriello
H V
HV
Genetic Services, Butterworth Hospital, Grand Rapids, Michigan, USA.
Carey
J C
JC
Suslak
E
E
Desposito
F R
FR
Leonard
B
B
Lipson
M
M
Friedman
B D
BD
Hoyme
H E
HE
D000015:Abnormalities, Multiple / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009056:Mouth Abnormalities / Q000473:pathology*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*