Photosensitivity in the Smith-Lemli-Opitz syndrome: The US experience of a new congenital photosensitivity syndrome
β Scribed by A.V. Anstey; C.R. Taylor
- Book ID
- 117396979
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 31 KB
- Volume
- 41
- Category
- Article
- ISSN
- 1097-6787
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A case of severe photosensitivity in a girl with the Smith-Lemli-Opitz syndrome is reported. Children with this recessively inherited metabolic disorder of cholesterol metabolism present with a variety of congenital abnormalities of the nervous system and internal organs in association with varying
Smith-Lemli-Opitz (SLO) affected children have multiple congenital physical and mental abnormalities; photosensitivity to ultraviolet A (UVA) has recently become a recognized feature. We present a patient with SLO and prominent photosensitivity in whom detailed phototesting has been performed at bas