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Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines: a second case report of Heimler's syndrome
  1. MARC TISCHKOWITZ,
  2. CATHERINE CLENAGHAN,
  3. SALLY DAVIES
  1. Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF4 4XW, UK
  2. University of Wales College of Medicine Dental School, Heath Park, Cardiff CF4 4XY, UK
  3. MGC Department of Clinical Genetics EE2422, Erasmus University Rotterdam and Academic Hospital Rotterdam Dijkzigt, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    1. LINDSAY HUNTER,
    2. JOHN POTTS
    1. Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF4 4XW, UK
    2. University of Wales College of Medicine Dental School, Heath Park, Cardiff CF4 4XY, UK
    3. MGC Department of Clinical Genetics EE2422, Erasmus University Rotterdam and Academic Hospital Rotterdam Dijkzigt, PO Box 1738, 3000 DR Rotterdam, The Netherlands
      1. SENNO VERHOEF
      1. Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF4 4XW, UK
      2. University of Wales College of Medicine Dental School, Heath Park, Cardiff CF4 4XY, UK
      3. MGC Department of Clinical Genetics EE2422, Erasmus University Rotterdam and Academic Hospital Rotterdam Dijkzigt, PO Box 1738, 3000 DR Rotterdam, The Netherlands

        https://doi.org/10.1136/jmg.36.12.942

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          Editor—Hearing loss owing to genetic causes has a reported prevalence of 1 in 1000 births and among these 15-30% are associated with other abnormalities, although only a small number are associated with oral and dental disorders.1 Heimleret al 2 reported two sibs with a combination of sensorineural hearing loss, amelogenesis imperfecta, and nail abnormalities (McKusick No 234580). We describe a further case here and extend the phenotypic spectrum of this syndrome.

          A 12 year old girl presented with a combination of unilateral sensorineural deafness and amelogenesis imperfecta. She was born at term following a normal pregnancy and had a birth weight of 3200 g (50th centile). There was no consanguinity within the family; her mother was aged 25 and her father was aged 29 at the time of conception. She had no major illnesses in the first years of life and all her developmental milestones were achieved within normal limits. At the age of 7, it was discovered that she had unilateral hearing loss and subsequent investigation showed that she had profound sensorineural deafness …

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