title: Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome.
abstract: We report a pair of siblings who exhibit findings similar to those described in Heimler's syndrome, namely sensori- neural hearing loss diagnosed after the first year of life and enamel hypoplasia with normal primary dentition. Nail findings of Beau's lines and leukonychia which were described in the previous cases are absent to questionable in our patients. Our findings support the theory of autosomal recessive inheritance for Heimler's syndrome. To our knowledge there have been only three cases reported previously and the gene location has yet to be determined.
authors.affiliation: Department of Pediatrics, University of Oklahoma, Oklahoma, USA.
authors.forename: C
authors.initials: C
authors.lastname: Pollak
authors.forename: M
authors.initials: M
authors.lastname: Floy
authors.forename: B
authors.initials: B
authors.lastname: Say
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D003743:Dental Enamel / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D009264:Nails, Malformed / Q000473:pathology*; D035781:Siblings