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afya
Syndromes
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> ''Patau'' (trisomy 13) Microcephaly, small eyes, cleft lip/palate, polydactyly, scalp lesions ''Edwards'' (trisomy 18) Micrognathia, low set ears, rocker bottom feet, overlapping fingers ''Fragile X'' Learning difficulties, macrocephaly, long face, large ears, macro-orchidism ''Noonan'' webbed neck, pectus excavatum, short stature, pulmonary stenosis ''Pierre-Robin'' Micrognathia, post displaced tongue, cleft palate similar to treacher-collins but that is autosomal dominant so usually family history ''Prader-Willi'' Hypotonia, hypogonadism, Obesity ''Williams'' short stature, learning difficulties, friendly extrovert, supravalvular aortic stenosis, transient neonatal hypercalcaemia
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