Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
| Autor: | Fred Gilbert, Rena Petrella, Kurt Hirschhorn, Jack G. Rabinowitz, Mark D. Ludman |
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| Rok vydání: | 1990 |
| Předmět: |
musculoskeletal diseases
Male Mesomelic Dysplasia Dwarfism Medicine Humans Abnormalities Multiple Foot deformity Genetics (clinical) Polydactyly business.industry Infant Anatomy Syndrome Synostosis Toes musculoskeletal system medicine.disease Osteochondrodysplasia body regions Radiography Dysplasia Fibula Agenesis business |
| Zdroj: | American journal of medical genetics. 37(1) |
| ISSN: | 0148-7299 |
| Popis: | Mesomelic dysplasia is a form of short-limb dwarfism characterized by disproportionate shortness of the middle segment of all limbs. Included in this category of skeletal disorders is the Nievergelt syndrome, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual foot deformity, radio-ulnar synostosis, and dysplasia of the elbow and knee joints. We describe a patient with mesomelic dysplasia with findings suggestive of the Nievergelt syndrome and with absence of fibulae and hexadactyly. |
| Databáze: | OpenAIRE |
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