Shwachman syndrome

(redirected from Shwachman-Diamond syndrome)
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Shwach·man syn·drome

(shwahk'măn), [MIM*260400]
an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency resulting in malabsorption, neutropenia with defect in neutrophile chemotaxis, short stature, and skeletal changes with radiographic findings of metaphysial flaring of long bones.

Shwach·man syn·drome

(shwahk'măn), [MIM*260400]
an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency resulting in malabsorption, neutropenia with defect in neutrophile chemotaxis, short stature, and skeletal changes with radiographic findings of metaphysial flaring of long bones.

Shwachman syndrome

A condition characterized by pancreatic atrophy, neutropenia, growth failure, metaphyseal defects, hepatitis, anemia, thrombocytopenia, myocardial lesions–myofiber fragmentation, round cell inflammation, and fibrosis

Shwachman,

Harry, U.S. pediatrician, 1910-1986.
Shwachman syndrome - an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency, neutropenia, short stature, and skeletal changes, with radiographic findings of metaphyseal flaring of the long bones. Synonym(s): Shwachman-Diamond syndrome
Shwachman-Diamond syndrome - Synonym(s): Shwachman syndrome

Shwach·man syn·drome

(shwahkmăn sindrōm) [MIM*260400]
Disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency resulting in malabsorption, neutropenia with defect in neutrophile chemotaxis, short stature, and skeletal changes.
References in periodicals archive ?
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway.
Risk of myelodysplasia and acute myeloid leukemia in Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome affecting 2 siblings in the background of second-degree parental consanguinity strongly favors an autosomal recessive trait.
Adult onset of acute myeloid leukemia (M6) in patients with Shwachman-Diamond syndrome.
Haematological abnormalities in Shwachman-Diamond syndrome.
Gracie will also perform a special song of hope that she wrote, which chronicles her journey as a Shwachman-Diamond Syndrome patient.