Christian's syndrome I

Alternative eponyms

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A syndrome characterised by craniosynostosis, arthrogryposis, and cleft palate associated with microcephaly, prominent occiput, hypertelorism, antimongoloid palpebral fissures, ophthalmoplegia, abnormal ear placement, and bifid uvula.

Description

A syndrome characterised by craniosynostosis, arthrogryposis, and cleft palate associated with microcephaly, prominent occiput, hypertelorism, antimongoloid palpebral fissures, ophthalmoplegia, abnormal ear placement, and bifid uvula. It was first reported in three siblings in an Amish kindred. Inheritance is autosomal recessive.

Bibliography

  • J. C. Christian, P. A. Andrews, P. M. Conneally, J. Muller:
    The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniosynostosis, and cleft palate.
    Clinical Genetics, Copenhagen, 1971, 2: 95-103.

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