SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment. The authors present diagnosis peculiarities and limitation of treatment options in a 5-weeks old infant with ambiguous genitalia.
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Amaltea Medical Publishing House
2015-03-01
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| Series: | Romanian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.1/EN/RJP_2015_1_EN_Art-07.pdf |