Cramer (1947) and Ribble (1931) observed affected sisters, and Warr (1938) described parental consanguinity. The primary dentition was not affected and no associated abnormalities were noted.
Gorlin (1979) knew of at least 8 reports of complete ... Cramer (1947) and Ribble (1931) observed affected sisters, and Warr (1938) described parental consanguinity. The primary dentition was not affected and no associated abnormalities were noted. Gorlin (1979) knew of at least 8 reports of complete absence of the permanent dentition with the entire primary dentition present and erupted at a normal time. Gorlin (1979) and Gorlin et al. (1980) presented evidence of autosomal recessive inheritance, including multiple affected sibs and consanguineous parents. On the basis of 2 families in which both parents had pegged or missing maxillary lateral incisors (150400), Witkop (1987) concluded that agenesis of the permanent teeth can be an expression of the homozygous state of the mutated gene. In the patients that he observed, the permanent molar teeth were present. Hoo (2000) reported a family with 2 sibs with anodontia of permanent teeth. Both parents had normal dentition, but the paternal grandmother, her twin sister, and a paternal aunt all had only 2 maxillary incisors, and the maternal grandmother had only 2 mandibular incisors. The author concluded that this family provides further evidence for the hypothesis of Witkop (1987) that anodontia of permanent teeth is a homozygous state of the gene responsible for pegged or missing maxillary lateral incisors.
In patients with a recessive form of ectodermal dysplasia (OODD; 257980) caused by mutation in the WNT10A gene (606268), Bohring et al. (2009) observed a pattern of tooth anomalies comparable to that seen in patients with anodontia of ... In patients with a recessive form of ectodermal dysplasia (OODD; 257980) caused by mutation in the WNT10A gene (606268), Bohring et al. (2009) observed a pattern of tooth anomalies comparable to that seen in patients with anodontia of permanent dentition and selective tooth agenesis-4 (150400).