The Smith Lemli Opitz syndrome: A newly recognised inherited photosensitivity disorder
β Scribed by Anstey, A.; Pearse, A.D.; Charman, C.; Ryan, A.
- Book ID
- 123532943
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 176 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0923-1811
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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