A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principle characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia,

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trisomie 20 en mosaïque

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A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the

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syndrome d'imperforation de l'oropharynx-anomalies costovertébrales

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A rare genetic developmental defect during embryogenesis syndrome with characteristics of postaxial polydactyly and other abnormalities of the hands and feet (for example brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as w

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syndrome de polydactylie postaxiale-anomalies dentaires et vertébrales

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characteristic ash curve

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courbe élémentaire

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Date index: 2024-03-28