โ Furley, Louise
๐ Fiction
๐
2020
๐ English
โ 194 KB
๐ 1 views
โฆ LIBER โฆ
Duplication of distal thumb phalanx in Shwachman-Diamond syndrome
โ Scribed by Dror, Yigal; Durie, Peter; Marcon, Peggy; Freedman, Melvin H.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 9 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980616)78:1<67::aid-ajmg14>3.0.co;2-m
No coin nor oath required. For personal study only.
โฆ Synopsis
Shwachman-Diamond syndrome (SDS) comprises of exocrine pancreatic dysfunction, various degree of pancytopenia, and metaphyseal dysplasia. We report on a child with SDS and duplication of distal thumb phalanx. This combination has not been reported previously. We suggest that supernumerary thumb is likely a rare skeletal manifestation of SDS and that SDS should be considered in the differential diagnosis of patients with bone marrow failure and duplication of the thumb along with Blackfan-Diamond/Aase syndrome and Fanconi's anemia.
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