Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3181930 | Actas Dermo-Sifiliográficas | 2007 | 5 Pages |
Abstract
Trichothiodystrophy comprises a heterogeneous group of autosomal recessive entities. This fact gives rise to different interrelated neuroectodermal disorders. From a structural point of view these features are the result of the low tissue sulfur content. We report a case of trichothiodystrophy initially classified as Tay syndrome that based on clinical features, complementary exams as well as on the disease evolution was labelled as PIBIDS syndrome.
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Authors
R. Jiménez-Puya, J.C. Moreno-Giménez, F. Camacho-MartÃnez, J. Ferrando-Barbera, R. Grimalt,