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Diagnosing Sjögren–Larsson syndrome in a 7-year-old Moroccan boy

✍ Scribed by M. L. Bernardini; A. M. Cangiotti; N. Zamponi; L. Porfiri; S. Cinti; A. Offidani

Book ID: 111242077
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 685 KB
Volume: 34
Category: Article
ISSN: 0303-6987
DOI: 10.1111/j.1600-0560.2006.00603.x

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Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene