Abstract
This is a report on two cases of mesomelic dysplasia Langer type. This is a rare kind of dwarfism which combines severe dwarfism with predominant shortening of the forearms and lower legs and other morphological abnormalities. The diagnosis can be made by ultrasonography in the early second trimester of the pregnancy.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging*
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Abnormalities, Multiple / genetics
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Adult
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Consanguinity
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Dwarfism / diagnostic imaging*
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Dwarfism / genetics
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Extremities / diagnostic imaging
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Female
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Fetal Diseases / diagnostic imaging*
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Fetal Diseases / genetics
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Genetic Counseling
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Humans
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Male
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Pedigree
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Pregnancy
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Pregnancy Trimester, Third
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Radiography
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Ultrasonography, Prenatal / methods*