1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-10-71-a 10.15844/pedneurbriefs-10-9-11 Mental Retardation Syndromes Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Smith-Lemli-Opitz Syndrome http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 09 1996 01 06 2016 10 9 71 71 Copyright: © 1996 The Author(s) 1996 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group

Clinical features as specific indicators in the diagnosis of Smith-Lemli-Opitz syndrome (SLOS) and the reliability of ultraviolet spectrophotometry (UVS) as a biochemical screening test were examined by an Italian SLOS Collaborative Group of investigators.

 Smith-Lemli-Opitz Syndrome Ultraviolet Spectrophotometry Chromotography/Mass Spectrometry Analysis

Clinical features as specific indicators in the diagnosis of Smith-Lemli-Opitz syndrome (SLOS) and the reliability of ultraviolet spectrophotometry (UVS) as a biochemical screening test were examined by an Italian SLOS Collaborative Group of investigators. Of 20 patients with clinical suspicion of SLOS, referred to 11 Italian pediatric and clinical genetic centers in 1994, the diagnosis was confirmed biochemically by gas chromotography/mass spectrometry analysis (GC/MS) of serum sterols in 10, and serum sterols were normal in 10. Comparison of clinical signs in confirmed cases and biochemically negative patients did not reveal a specific group of manifestations of SLOS. UVS measurement of 7-dehydrocholesterol, which accumulates in the plasma in SLOS, correlated with GC/MS profiles. Serum bile acid concentrations were lower than normal in 4 of 5 patients with the syndrome. [1]

COMMENT. The “gestalt” impression formed by an experienced clinician examining the facial appearance of a child is perhaps the most practical and reliable method of diagnosis of Smith-Lemli-Opitz syndrome. Signs and symptoms of the syndrome are variable and non-specific and include mental retardation, failure to thrive, feeding difficulties, hypotonia, microcephaly, ptosis and epicanthal folds, anteverted nostrils, micrognathia, low set ears, syndactyly, simian creases, and hypospadias. Ultraviolet spectrophotometry determination of serum 7-DHC levels is 100% sensitive, relatively inexpensive, and specific for the biochemical diagnosis of SLOS.

Guzzetta V De Fabiani E Galli G Colombo C Corso G Lecora M Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group Acta Paediatr 1996 Aug 85 8 937 42 8863875 10.1111/j.1651-2227.1996.tb14190.x