Abstract
We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes.
MeSH terms
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Adult
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Female
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Fetus / pathology
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Humans
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Hydrocephalus / complications*
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Hydrocephalus / genetics
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Hydrocephalus / pathology
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Osteochondrodysplasias / genetics
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Osteochondrodysplasias / pathology
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Phenotype
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Pregnancy
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Short Rib-Polydactyly Syndrome / complications*
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Short Rib-Polydactyly Syndrome / genetics
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Short Rib-Polydactyly Syndrome / pathology
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Syndrome