Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas [PDF]
Case Reports in Pediatrics, 2014 Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and ...
Mehmet Demirdöven +4 more
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Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays [PDF]
Clinical Case Reports, 2023 Smith‐Lemli‐Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly.
Simone Coupe +6 more
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Pediatric Neurology Briefs, 1996 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 ...
J Gordon Millichap
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Smith–Lemli–Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development [PDF]
BiomedicinesBackground/Objectives: Smith–Lemli–Opitz syndrome is a metabolic autosomal recessive disease, characterized by congenital defects, with concomitant psychomotor developmental delay. The symptoms are variable and depend on the clinical form of the disease.
Dorota Olczak-Kowalczyk +3 more
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Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome [PDF]
Travmatologiâ i Ortopediâ Rossii, 2013 Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism.
N. A. Kovalenko-Klychkova +2 more
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Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience [PDF]
Balkan Journal of Medical Genetics, 2021 The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (
Begic N, Begic Z, Begic E
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Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis [PDF]
Frontiers in Molecular Biosciences, 2023 The biosynthesis of cholesterol, an essential component of higher eukaryotic membranes, was worked out by Konrad Bloch (and Feodor Lynen) in the 1960s and they received the Nobel Prize around that time in recognition of their pioneering contributions. An
Amitabha Chattopadhyay +3 more
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Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report [PDF]
Journal of Medical Case Reports, 2018 Background Smith–Lemli–Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay.
Chamara Jayamanne +4 more
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7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome [PDF]
eLife, 2022 Defective 3β-hydroxysterol-Δ7 -reductase (DHCR7) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in a deficiency in cholesterol and accumulation of its precursor, 7-dehydrocholesterol (7-DHC).
Hideaki Tomita +5 more
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Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report [PDF]
Journal of Medical Case Reports, 2011 Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation ...
Tullo Domenica +3 more
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