Abstract
We describe the antenatal ultrasound findings of growth retardation, oligohydramnios, mesomelic limb shortness, and cardiac, renal, and hand defects in a fetus who was postnatally diagnosed as having RSH ("Smith-Lemli-Opitz") syndrome. An unusual finding was ectrodactyly of both hands.
MeSH terms
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Brain / pathology
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Chromosomes, Human, Pair 7 / genetics
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Fatal Outcome
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Female
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Foot Deformities, Congenital / diagnostic imaging
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Foot Deformities, Congenital / genetics*
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Foot Deformities, Congenital / pathology
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Hand Deformities, Congenital / diagnostic imaging
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Hand Deformities, Congenital / genetics*
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Hand Deformities, Congenital / pathology
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Heart Defects, Congenital / genetics
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Humans
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Infant, Newborn
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Phenotype
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Radiography
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Smith-Lemli-Opitz Syndrome / diagnostic imaging
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Smith-Lemli-Opitz Syndrome / genetics*
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Smith-Lemli-Opitz Syndrome / pathology