Tay syndrome.

Abstract

Tay syndrome or IBIDS is a rare autosomal recessive genetic disorder characterized by congenital ichthyosis and abnormal brittle hair (trichothiodystrophy). Other features include photosensitivity, abnormal nails and multiple developmental defects affecting organs mainly derived from neuroectoderm. The exact prevalence of this condition is not known, but up to 1991, clinical data of 15 cases with IBIDS were published .We report a case of Tay syndrome with additional features of Duane's retraction syndrome and Perthes disease, which have not yet been reported in literature.

• Authors: S D Jambhekar, A R Dhongade
• Journal: Indian journal of pediatrics (Indian J Pediatr) Vol. 75 Issue 3 Pg. 288-90 (Mar 2008) ISSN: 0973-7693 [Electronic] India
• PMID: 18376101 (Publication Type: Case Reports, Journal Article)

Topics

• Child
• Consanguinity
• Diagnosis, Differential
• Hair (abnormalities)
• Humans
• Ichthyosiform Erythroderma, Congenital (diagnosis)
• Male