Smith-Lemli-Opitz syndrome: a review, case report and dental implications. Academic Article

abstract

• Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive developmental disorder characterized by multiple congenital malformations, dysmorphic craniofacial features, and mental impairment. SLOS is caused by a deficiency of the enzyme 7-dehydrocholesterol delta7 reductase which converts 7-dehyrocholesterol to cholesterol. This error results in elevated serum levels of 7-dehydrocholesterol and decreased levels of serum cholesterol. This article describes the clinical features and medical treatment of SLOS. A case report is included, with recommended guidelines for providing safe and comprehensive dental care for individuals with SLOS.

authors

• Muzzin, Kathleen

published proceedings

• Spec Care Dentist

author list (cited authors)

• Muzzin, K. B., & Harper, L. F

citation count

• 3

complete list of authors

• Muzzin, Kathleen B||Harper, Lisa F

publication date

• January 2003

publisher

• Wiley  Publisher

published in

• Special Care in Dentistry  Journal

keywords

• Adult
• Cleft Palate
• Female
• Humans
• Malocclusion, Angle Class Ii
• Micrognathism
• Mouth Abnormalities
• Open Bite
• Smith-lemli-opitz Syndrome
• Tooth Abnormalities

PubMed Central ID

• 12887150

Digital Object Identifier (DOI)

• 10.1111/j.1754-4505.2003.tb00285.x

start page

• 22

end page

• 27

volume

• 23

issue

• 1

URL

• http://dx.doi.org/10.1111/j.1754-4505.2003.tb00285.x