Abstract
This paper presents a case report on a 59-year old patient of small stature with moderate mental retardation, strabismus and several rare skeletal anomalies. We found an os odontoideum, a dysontogenetic 3fold fusion of cervical vertebrae, multiple double-sided wrist bone dysplasias and brachytelephalangical digiti pedis I, but no anomalies of the heart or genitals. Clinical signs, biochemical parameters and results of x-ray and ultrasonic examination are demonstrated in this complex malformation syndrome that combines different anomalies known from other syndromes.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging*
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Bone Diseases, Developmental / diagnostic imaging*
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Carpal Bones / abnormalities
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Carpal Bones / diagnostic imaging
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Cervical Vertebrae / abnormalities*
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Cervical Vertebrae / diagnostic imaging
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Female
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Humans
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Intellectual Disability / diagnostic imaging
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Intervertebral Disc / abnormalities
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Intervertebral Disc / diagnostic imaging
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Metacarpus / abnormalities
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Metacarpus / diagnostic imaging
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Middle Aged
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Odontoid Process / abnormalities
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Odontoid Process / diagnostic imaging
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Radiography
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Radius / abnormalities
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Radius / diagnostic imaging
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Toes / abnormalities
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Toes / diagnostic imaging