Familial pterygium syndrome
Autor: | M.-P. Roth, C. Stoll, P. Kehr, J.-M. Levy |
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Rok vydání: | 2008 |
Předmět: |
musculoskeletal diseases
medicine.medical_specialty Adolescent business.industry education Syndrome Scoliosis musculoskeletal system medicine.disease Dermatology Bone and Bones Pterygium body regions Genetics medicine Familial pterygium syndrome Humans Abnormalities Multiple Female Dermatoglyphics Child business Neck Genetics (clinical) |
Zdroj: | Clinical Genetics. 18:317-320 |
ISSN: | 1399-0004 0009-9163 |
Popis: | Two sisters affected with the same disorder are described. They had webbing of the neck, the antecubital fossae and the popliteal regions, together with flexion deformities of the limb joints and anomalies of the vertebrae. Eight other cases are known. The condition is inherited in an autosomal recessive mode. |
Databáze: | OpenAIRE |
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