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  • Title: Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.
    Author: Toriello HV, Carey JC, Suslak E, Desposito FR, Leonard B, Lipson M, Friedman BD, Hoyme HE.
    Journal: Am J Med Genet; 1997 Mar 31; 69(3):250-60. PubMed ID: 9096753.
    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.
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