Abstract
A female newborn presenting a malformative syndrome which groups trapezoidocephaly, midfacial hypoplasia, radiohumeral synostosis, multiple joint contractures and femoral bowing is described as being affected of an Antley-Bixler syndrome. We compare this case with the seventeen others cases reported.
MeSH terms
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Abnormalities, Multiple / genetics*
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Anus, Imperforate / genetics
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Chromosome Aberrations / genetics*
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Chromosome Disorders
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Contracture / genetics*
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Craniosynostoses / genetics
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Facial Bones / abnormalities*
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Female
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Femur / abnormalities
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Genes, Recessive / genetics*
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Humans
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Humerus / abnormalities*
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Infant, Newborn
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Radius / abnormalities*
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Skull / abnormalities*
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Syndrome
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Synostosis / genetics*