title: Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.
abstract: 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.
authors.affiliation: Genetic Services, Butterworth Hospital, Grand Rapids, Michigan, USA.
authors.forename: H V
authors.initials: HV
authors.lastname: Toriello
authors.forename: J C
authors.initials: JC
authors.lastname: Carey
authors.forename: E
authors.initials: E
authors.lastname: Suslak
authors.forename: F R
authors.initials: FR
authors.lastname: Desposito
authors.forename: B
authors.initials: B
authors.lastname: Leonard
authors.forename: M
authors.initials: M
authors.lastname: Lipson
authors.forename: B D
authors.initials: BD
authors.lastname: Friedman
authors.forename: H E
authors.initials: HE
authors.lastname: Hoyme
mesh_terms: 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*