Keys to Diagnosis and Management of Smith-Lemli-Opitz Syndrome | Chapter 14 | Current Practice in Medical Science Vol. 2

Smith, Lemli, and Opitz reported a novel condition that causes congenital mental retardation in 1964, describing it as having genital ambiguity, sexual dysgenesis, and mental retardation. This disease follows Down Syndrome and Fragile X Syndrome. Smith-Lemli-Opitz Syndrome (SLOS) affects between 1:20,000 and 1:40,000 Caucasians. SLOS is an autosomal recessive genetic condition with intrauterine onset and the third most common cause of congenital mental impairment. This book chapter's objective is to present the SLOS, together with all of its genetic, metabolic, malformational, and biochemical characteristics, as well as the likelihood of identification and diagnosis.

Author(s) Details:

Cristina-Crenguta Albu,

Department of Genetics, “Carol Davila” University of Medicine and Pharmacy, 37 Dionisie Lupu Street, 1st District, 020021, Bucharest, Romania.

Please see the link here: https://stm.bookpi.org/CPMS-V2/article/view/7353