Abstract
We describe a rare case of type II achondrogenesis (gestational age = thirty-two weeks) dead forty-five minutes after birth. This congenital skeletal dysplasia is classified among the lethal osteochondrodysplasias. Clinical features were enough for diagnosis and autopsy added nothing to our clinical knowledges.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Fatal Outcome
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Female
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Gestational Age
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Humans
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Infant, Newborn
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Osteochondrodysplasias / diagnosis
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Osteochondrodysplasias / genetics*
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Osteochondrodysplasias / pathology
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Pregnancy