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  • Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

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Research Article
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
  1. W Reardon,
  2. C M Hall,
  3. M J Dillon,
  4. M Baraitser
  1. Department of Clinical Genetics, Hospital for Sick Children, London.

    Abstract

    A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered.

    https://doi.org/10.1136/jmg.28.9.622

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