Epibulbar lipodermoids, preauricular appendages and polythelia in four generations: a new hereditary syndrome?
A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preauricular manifestations while visible epibulbar lipodermoids do not seem obligatory. The syndrome has a typical dominant pattern of heredity.
Goldschmidt
Ernst
E
Danish Institute for Myopia Research, Vedbaek, Denmark. goldschmidt@dadlnet.dk
Jacobsen
Nina
N
D020517:Atrial Appendage / Q000002:abnormalities*; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008067:Lipoma / Q000235:genetics* / Q000473:pathology; D008297:Male; D009558:Nipples / Q000002:abnormalities*; D009918:Orbital Neoplasms / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome