Acromesomelic dwarfism: Manifestations in childhood
| Autor: | Edward M. Rissman, John G. Rogers, Rodney K. Beals, Leslie A. Bard, Irene L. Solomon, John M. Opitz, Penny A. Bard, John P. Dorst, Judith G. Hall, Leonard O. Langer, E. A. Franken, Robert S. Sparkes |
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| Rok vydání: | 1977 |
| Předmět: |
Male
Dwarfism First year of life Short stature Bone and Bones Achondroplasia Diagnosis Differential Forearm Humans Medicine Child Genetics (clinical) business.industry Infant Anatomy Acromesomelic dwarfism medicine.disease Spine Radiography body regions Phenotype medicine.anatomical_structure Spondylometaphyseal dysplasia Child Preschool Female Differential diagnosis medicine.symptom business Hand Deformities Congenital |
| Zdroj: | American Journal of Medical Genetics. 1:87-100 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320010110 |
| Popis: | Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life. |
| Databáze: | OpenAIRE |
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