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A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis.

Abstract
A Japanese boy with a hearing deficit, cataracts, mental retardation, and brachycephaly without craniosynostosis is described. We believe that this patient represents a variant of the Fine-Lubinsky syndrome, and is the first report from a racial group other than Caucasian.
AuthorsTakaya Nakane, Naoki Mizobe, Hidemasa Hayashibe, Shinpei Nakazawa
JournalClinical dysmorphology (Clin Dysmorphol) Vol. 11 Issue 3 Pg. 195-8 (Jul 2002) ISSN: 0962-8827 [Print] England
PMID12072800 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Abnormalities, Multiple (pathology)
  • Cataract (pathology)
  • Craniosynostoses (pathology)
  • Deafness (pathology)
  • Humans
  • Infant
  • Intellectual Disability (pathology)
  • Male
  • Radiography
  • Skull (abnormalities, diagnostic imaging)

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