Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls.
We report monozygotic twin girls with a combination of bilateral severe sensorineural deafness diagnosed at the age of 3 years, normal primary dentition but enamel hypoplasia affecting the secondary dentition and Beau's lines and leukonychia of the nails. This constellation of findings has been previously described in three case reports as Heimler syndrome, first documented in 1991.
Ong
K R
KR
Department of Clinical Genetics, West Midlands Regional Genetics Service, UK, Metchley Park Road, Edgbaston, B15 2TG Birmingham, West Midlands, UK. kong@picr.man.ac.uk
Visram
S
S
McKaig
S
S
Brueton
L A
LA
D000567:Amelogenesis Imperfecta / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D006801:Humans; D009264:Nails, Malformed / Q000175:diagnosis*; D013577:Syndrome; D014430:Twins, Monozygotic