Das Syndrom der Achondroplasie mit schwerer kombinierter Immundefizienz ist eine wahrscheinlich rezesive Erkrankung, bei welcher die zugrundeliegende genetische Störung noch nicht bekannt ist. Die Erkrankung wurde zuerst unter den Amish festgestellt.
1. |
MacDermot KD et al. (1991) Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. |
2. |
Ammann AJ et al. (1974) Antibody-mediated immunodeficiency in short-limbed dwarfism. |
3. |
Say B et al. (1972) Thymic dysplasia associated with dyschondroplasia in an infant. |
4. |
Alexander WJ et al. (1968) [Unusual bone changes in thymic alymphoplasia]. |
5. |
Gatti RA et al. (1969) Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. |
6. |
McKusick VA et al. (1966) Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships. |
7. |
Orphanet article Orphanet ID 935 |
8. |
OMIM.ORG article Omim 200900 |