Symptomatic atlantoaxial dislocation in Down's syndrome. 1988

J P Braakhekke

UI MeSH Term Description Entries
D008297 Male Males
D004204 Joint Dislocations Displacement of bones from their normal positions at a joint. Inferior Dislocation,Joint Subluxations,Luxatio Erecta,Dislocation, Joint,Dislocations, Joint,Inferior Dislocations,Joint Dislocation,Joint Subluxation,Subluxation, Joint,Subluxations, Joint
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001268 Atlanto-Axial Joint The joint involving the CERVICAL ATLAS and axis bones. Atlanto Axial Joint,Atlantoaxial Joint,Atlanto Axial Joints,Atlanto-Axial Joints,Atlantoaxial Joints,Joint, Atlanto Axial,Joint, Atlanto-Axial,Joint, Atlantoaxial,Joints, Atlanto Axial,Joints, Atlanto-Axial,Joints, Atlantoaxial

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