Feingold syndrome (or oculodigitoesophagoduodenal syndrome; Microcephaly, Mesobrachyphalangy, Tracheo-esophageal fistula syndrome) is a dominantly inherited combination of hand and foot abnormalities, microcephaly, esophageal/duodenal atresia, short palpebral fissures and learning disabilities, firs
Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature
โ Scribed by Manouvrier-Hanu, S.; Puech, B.; Piette, F.; Boute-Benejean, O.; Desbonnet, A.; Duquesnoy, B.; Farriaux, J.P.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 32 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980319)76:3<217::aid-ajmg4>3.0.co;2-n
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โฆ Synopsis
Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis.
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