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Results for “Smith-Lemli-Opitz Syndrome”

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The pathological anatomy of the Smith-Lemli-Opitz syndrome.

Two cases of the Smith-Lemli-Opitz syndrome are described, together with the autopsy findings. In both cases, the typical appearance and visceral malformations were present. Hypoplasia of the frontal lobes and corpus callosum, and aplasia of the splenium constitute abnormalities of the brain which may be useful in the diagnosis of this disorder at autopsy. The autosomal recessive mode of inheritance of this syndrome was confirmed.

Abnormalities, Multiple↗
PubMed2025

Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.

Smith-Lemli-Opitz syndrome (SLOS), also known as RSH syndrome, is an inborn error of cholesterol biosynthesis first described in 1964. Since then, significant advances have been made in understanding its pathophysiology, both during fetal development and postnatally. Cholesterol is a crucial lipid in the body, especially in the central nervous system, which accounts for nearly 25% of the body's total cholesterol. Cholesterol deficiency in SLOS can lead to congenital malformations and severe neurodevelopmental disabilities. The biochemical and genetic bases of SLOS have been elucidated. Reduced or absent 7-dehydrocholesterol reductase enzymatic activity results not only in cholesterol deficiency but also in accumulation of 7-dehydrocholesterol, 8-dehydrocholesterol, and toxic oxysterol metabolites, which contribute to the pathophysiology of SLOS and correlate variably with the severity of its clinical symptoms. Despite decades of research, the clinical recognition of SLOS remains challenging because of the condition's multisystemic nature and noteworthy phenotypic variability. This review provides an up-to-date summary of major research advances in the study of SLOS with a focus on clinical manifestations and biochemical and genetic findings, which, taken together, facilitate recognition and diagnostic confirmation. Additionally, we recap past and current efforts in therapeutic development and offer guidance for disease management.

Humans↗
PubMed1979

Postlenticular membrane associated with Smith-Lemli-Opitz syndrome.

A 6-day-old boy with Smith-Lemli-Opitz syndrome developed bilateral cataracts, posterior synechiae, and a dense postlenticular membrane. No other signs of inflammation were noted that could account for the development of either the posterior synechiae or membrane. To our knowledge, this is the first published report of such an associated membrane.

Abnormalities, Multiple↗
PubMed1977

Sclerocornea associated with the Smith-Lemli-Opitz syndrome.

A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, microcephaly with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea. The association of this rare eye finding with this rare congenital syndrome is unique. Successful penetrating keratoplasty was performed in one eye at 8 months of age.

Abnormalities, Multiple↗
PubMed1975

Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

This paper reports two siblings with the Smith-Lemli-Opitz syndrome and reviews the literature on the subject. SLOS is a syndrome of multiple congenital anomalies with mental and growth retardation, unusual facies, genito-urinary and hand and foot abnormalities inherited as an autosomal recessive trait.

Abnormalities, Multiple↗
PubMed1977

Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations.

The case of a three-year-old boy with the Smith-Lemli-Opitz syndrome is reported. In addition to the constellation of skeletal and genital anomalies classically described in this syndrome, this patient had spontaneous opsoclonus-like eye movements, strabismus, lack of visual following responses and of opticokinetic reflexes. At autopsy the cerebellar vermis was found to be absent. There were retinal hemangiomas. Microscopical examinations showed loss of Purkinje cells and extensive neuronal degeneration within dentate nuclei, associated with patchy demyelination of cerebellar peduncles and central white matter. These findings may contribute to the explanation of the pathophysiology of opsoclonus and some of the neuro-ophthalmological findings.

Abnormalities, Multiple↗
PubMed1975

The short arm deletion syndrome of chromosome 4 (4p- syndrome).

Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5.

Abnormalities, Multiple↗
PubMed1975

Diagnosis of human fetal abnormalities by fetography.

Being able to detect fetal abnormalities that may be associated with hydramnios would be extremely useful, especially when diabetes mellitus, Rh isoimmunization, and multiple pregnancy are ruled out. For this purpose the new technique of fetography, consisting of injecting a small amount of 2 radioque media (liposoluble and hydrosoluble), was used. Four out of 6 fetuses were correctly predicted to be abnormal. They were 1 case of esophageal atresia, 1 of suspicious chromosomal abnormality (after birth it was confirmed as having the Smith-Lemli-Opitz syndrome), and 2 of trisomy 18. It is felt that this simple technique should be used as an aid to the obstetrician faced with the problem of determining the basis of unexplained hydramnios.

Adult↗