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Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.","A rare genetic primary bone dysplasia disorder with characteristics of early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.","Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies."],"subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/363070008","http://purl.bioontology.org/ontology/SNOMEDCT/85995004","http://purl.bioontology.org/ontology/SNOMEDCT/254062008","http://purl.bioontology.org/ontology/SNOMEDCT/363212003","http://purl.bioontology.org/ontology/SNOMEDCT/43476002","http://purl.bioontology.org/ontology/SNOMEDCT/41443008"],"parents":[{"id":"http://purl.bioontology.org/ontology/SNOMEDCT/363070008","synonym":["Developmental hereditary disorder (disorder)"],"notation":"363070008","semanticType":["http://purl.bioontology.org/ontology/STY/T046"],"cui":["C1285243"],"prefLabel":"Developmental hereditary 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