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  • Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome

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Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome
  1. J Burn*,
  2. N Martin†
  1. *The MRC Clinical Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH
  2. †The Children's Department, London Hospital (Whitechapel), Turner Street, London E1 1BB.

    Abstract

    A boy was referred in 1977 for investigation of global retardation and hypotonia. Minor dysmorphic features and intractable constipation were noted. In 1981 the mother's sister had a son with a similar phenotype. This is probably the X linked Opitz-Kaveggia or FG syndrome.

    https://doi.org/10.1136/jmg.20.2.97

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