A boy highly suspected of Shwachman syndrome.
نویسندگان
چکیده
منابع مشابه
Papillon-Lefévre syndrome: a highly-suspected case.
Papillon-Lefévre syndrome (PLS) is characterized by severe periodontal disease extending to destruction of the alveolar bone surrounding deciduous teeth and palmoplantar hyperkeratosis of the skin. Increased susceptibility to infection has been reported among individuals with the cathepsin C (CTSC) gene mutation. This article reports a 7-year-old Japanese girl who presented with deciduous tooth...
متن کاملA case of Shwachman–Diamond syndrome
Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400), characterized by exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow (BM) dysfunction, with a risk, as high as 30%, to develop myelodysplastic syndrome and/or acute myeloid leukaemia (MDS/AML). The SBDS gene (OMIM 607744) is localized on chromosome 7 at the band q11 and mutations of this gen...
متن کاملPsychological characteristics of children with Shwachman syndrome.
Twelve children and young adults with Shwachman syndrome were compared with their unaffected siblings and with controls suffering from cystic fibrosis in terms of intellectual ability, motor skills, and behaviour. There were highly significant differences in intelligence quotient between those with Shwachman syndrome and the other two groups. Four of the index subjects but none of the control s...
متن کاملA Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease
Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation.
متن کاملMolecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) a rare autosomal recessive disorder described first time 1964 (1), is characterized by the association of exocrine pancreatic and bone marrow dysfunction. Other systemic findings (skeletal, liver and psychomotor) or problems secondary to bone marrow dysfunction may also be detected (1–4). Intermittent or persistent neutropenia is the most common hematologic find...
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ژورنال
عنوان ژورنال: Japanese Journal of Clinical Immunology
سال: 1998
ISSN: 0911-4300,1349-7413
DOI: 10.2177/jsci.21.33