Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance.

Abstract

OBJECTIVES:

To determine the incidence and point prevalence of Smith-Lemli-Opitz syndrome (SLOS) in Canada; to determine the percentage of mild cases of SLOS; and to determine the age of diagnosis of mildly affected patients. SLOS is a treatable genetic condition that may be difficult to diagnose in its mildest form because of nonspecific clinical markers (two- to three-toe webbing, short upturned nose, and micrognathia).

STUDY DESIGN:

More than 2000 Canadian pediatricians and pediatric specialists were surveyed monthly for 36 months through a standing national surveillance program. A clinical identification form was designed to identify patients with SLOS or its phenocopies. Clinical information was obtained on all reported cases; suggested cases were investigated by biochemical or molecular analysis.

RESULTS:

Thirty-five of 86 reports of suggested SLOS were confirmed SLOS. Twelve infants with SLOS were born during the surveillance period, and two additional infants with SLOS were diagnosed prenatally. Twenty-one infants with SLOS were born before the onset of surveillance.

CONCLUSIONS:

The minimum incidence of SLOS in Canada is 1 in 70,358 live births. The minimum prevalence of SLOS is approximately 1 in 950,000. Eighteen percent of patients were mildly affected; the mean age of diagnosis of mildly affected patients was 5.3 years.

• Authors: Małgorzata J M Nowaczyk, Susan Zeesman, John S Waye, James D Douketis
• Journal: The Journal of pediatrics (J Pediatr) Vol. 145 Issue 4 Pg. 530-5 (Oct 2004) ISSN: 0022-3476 [Print] United States
• PMID: 15480380 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Canada (epidemiology)
• Child
• Child, Preschool
• Humans
• Incidence
• Infant
• Infant, Newborn
• Population Surveillance
• Prevalence
• Prospective Studies
• Smith-Lemli-Opitz Syndrome (epidemiology)
• White People (statistics & numerical data)