Table 1

A comparison of phenotypes between the originally described cases and a new case of Heimler's syndrome

Original case (sib 1) Original case (sib 2) Case reported here
Sensorineural hearing lossBilateral, diagnosed at 18 monthsBilateral, diagnosed at 2½ yUnilateral, diagnosed at 7 y
Primary dentitionNormalNormalNormal
Permanent dentitionEnamel hypoplasiaEnamel hypoplasiaEnamel hypomineralisation
Nail abnormalitiesPunctate leuconychia, Beau's linesPunctate leuconychia, Beau's linesBeau's lines