| Literature DB >> 8456838 |
Abstract
We describe a family with at least seven living persons who are affected by an hitherto undescribed autosomal-dominant syndrome with variable expression, bearing close resemblance to the EEC syndrome and related disorders. The main manifestations are hypodontia and/or early loss of permanent teeth, ectrodactyly, obstruction of lacrimal ducts, onychodysplasia, and excessive freckling. We propose the acronym ADULT (acro-dermato-ungual-lacrimal-tooth)-syndrome for this condition.Entities:
Mesh:
Year: 1993 PMID: 8456838 DOI: 10.1002/ajmg.1320450525
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299