Lindex #1289

Heimler A, Sciubba J, Leiber E, Kamen S

An Unusual Presentation of Opalescent Dentin and Brandywine Isolate Hereditary Opalescent Dentin

in an Ashkenazik Jewish Family

Oral Surgery, Oral Medicine, Oral Pathology

1985; 59(6):608-615

Dentinogenesis imperfecta occurs as an autosomal dominant trait with variable expressivity either among persons with osteogenesis imperfecta or as a separate clinical entity in persons who do not present with features of osteogenesis imperfecta. Among the latter, there is a very high degree of penetrance of the gene. Most investigators are of the opinion that these 2 entities are separate disorders, although there is no specific biochemical evidence to support this impression. The following classifications have been proposed: "dentinogenesis imperfecta" for abnormalities of dentin formation in persons with osteogenesis imperfecta; "opalescent dentin" for patients with abnormalities of dentin and enamel who do not have features of osteogenesis imperfecta; and "Brandywine isolate hereditary opalescent dentin" for a variant of OD observed in the Brandywine isolate in which the primary teeth have some unusual features not observed in OD. Opalescent dentin was found to occur in 1:8000 Michigan school children.

Family histories show that most affected persons can be traced back to Caucasian ancestry of English, French, German, Italian, Danish, Swedish or Irish background, with the majority being traced to England or France. The disorder has been found to have a high incidence, 1:15, in the Brandywine isolate of Maryland, an inbred population of mixed white, black and American Indian ancestry, where the gene has been traced to a Liverpool, England sea-captain who had arrived in the Brandywine isolate in 1732. In this paper, the authors studied 2 children of Austrian Ashkenazi Jewish background, related as second cousins, with no connection to the Brandywine community, who have a variant of opalescent dentin in their deciduous teeth (i.e., similar to the Brandywine cases). OD had been transmitted in this family for at least 4 generations.

One of the children also had dysmorphic facial features, seizures, and severe mental retardation. Her mother also presented with dysmorphic facial features but with mild mental retardation. The mothers of both children and several other family members have classic Opalescent Dentin (Type III). Radiographs of the deciduous and permanent dentition of one mother showed obliterated pulp chambers. Confirmation of obliterated pulp chambers in the deciduous teeth of the mother of the child with Brandywine isolate hereditary opalescent dentin makes it unlikely that classic Opalescent Dentin and Brandywine isolate hereditary Opalescent Dentin are separate genetic disorders. In summary, while there have been previous reports of OD in families unrelated to the Brandywine isolate, there have only been 2 previous reports of children with no connection to the Brandywine isolate hereditary OD. Documentation of obliterated pulp chambers in the deciduous teeth of a mother of the child with enlarged pulp chambers tends to support the hypothesis of some investigators that Brandywine isolate hereditary OD is a variant of OD rather than a separate genetic entity.