Tay or IBIDS Syndrome: A Case with Growth and Mental Retardation, Congenital Ichthyosis and Brittle Hair |
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| Authors: | H. K:SON BLOMQUIST,O. BÄ CK,M. FAGERLUND,G. HOLMGREN,C. STECKSÉ N-BLICKS |
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| Affiliation: | Departments of Paediatrics;Dermatology;Diagnostic radiology;Clinical Genetics;Pedodontics, University Hospital, Umeå, Sweden |
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| Abstract: | ![]()
ABSTRACT. A new, Swedish case with Tay or IBIDS syndrome is presented. The boy had growth and mental retardation, congenital ichthyosis and brittle hair. He was the only child in an uncle–niece marriage. The boy suffered recurrent infections and died at the age of 3 years from pneumonia. Clinical data on 15 cases are presented from a study of the literature. |
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| Keywords: | Tay syndrome collodium skin congenital ichthyosis brittle hair trichothiodystrophy dental enamel defects growth retardation mental retardation recurrent infections consanguinity square-shaped vertebrae |
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