Atlantoaxial dislocation and Down's syndrome. 1980

W J Whaley, and W D Gray

The phenotypic features of Down's syndrome are easily recognized and include characteristic facial features, hypotonia, ligament laxity, transverse palmar creases and mental subnormality. Associated manifestations and complications are also familiar and involve almost every organ system. Congenital heart defects, bowel malformations and a tendency to leukemia are common attendant problems. Less common, however, are defects of the skeletal system; in fact, the most recent edition of a standard pediatric textbook makes no mention of anomalies of the vertebral column. The purpose of this paper is to call attention to the association between Down's syndrome and atlantoaxial dislocation, which in our patient resulted in quadriplegia and eventually death.

UI MeSH Term Description Entries
D008297 Male Males
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
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
D001270 Cervical Atlas The first cervical vertebra. Atlas, Cervical,Arcuate Foramen,C1 Vertebra,Kimmerle Anomaly,Ponticulus Posterior of the Atlas,Ponticulus Posticus,Anomaly, Kimmerle,C1 Vertebras,Vertebra, C1,Vertebras, C1
D001368 Axis, Cervical Vertebra The second cervical vertebra. Epistropheus,C2 Vertebra,Cervical Vertebra Axis,Os Odontoideum,C2 Vertebras,Vertebra Axis, Cervical
D013117 Spinal Cord Compression Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence. Conus Medullaris Syndrome,Myelopathy, Compressive,Extramedullary Spinal Cord Compression,Spinal Cord Compression, Extramedullary,Compression, Spinal Cord,Compressions, Spinal Cord,Compressive Myelopathy,Conus Medullaris Syndromes,Spinal Cord Compressions,Syndrome, Conus Medullaris,Syndromes, Conus Medullaris

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