Abstract
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.
MeSH terms
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Abnormalities, Multiple / genetics*
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Child
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Child, Preschool
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Dermatoglyphics
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Facial Expression
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Female
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Genes, Recessive
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Growth Disorders / complications
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Humans
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Hypospadias / complications
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Intellectual Disability / complications
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Kidney / abnormalities
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Male
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Microcephaly / complications
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Phenotype
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Pregnancy
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Psychomotor Disorders
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Pyloric Stenosis / complications
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Pylorus / surgery
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Syndactyly / complications
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Syndrome