Schwachman-Diamond Syndrome (human chromosome 7q11)doi:10.1007/978-1-4020-6754-9_15128Involves recessive pancreatic lipomatosis, bone marrow dysfunction and skeletal anomalies. (See Goobie S et al 2001 Am J Hum Genet 68:1048; Boocock GRB et al 2003 Nature Genet 33:97)....
Schwachman-Diamond Syndrome (SDS) is an inherited illness characterized by exocrine pancreatic insufficiency and by congenital neutropenia. Patients with SDS are at increased risk of developing myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML). Bone marrow aspiration and biopsy can be u...
Schwachman Syndrome (Schwachman-Diamond Syndrome)doi:10.1002/9781118660584.ESE2142Barry H. DavisonJoan W. MayfieldJohn Wiley & Sons, Ltd
Schwachman-Diamond syndrome, infantsCTradiographyUSSchwachman-Diamond syndrome is an autosomal recessive disorder consisting of exocrine pancreatic insufficiency and neutropenia. The typical pathological finding with this syndrome is fatty infiltration in the pancreas of patients. We report a case of Scwach...
Schwachman-Diamond syndrome is an autosomal recessive disorder consisting of exocrine pancreatic insufficiency and neutropenia. The typical pathological finding with this syndrome is fatty infiltration in the pancreas of patients. We report a case of Scwachman-Diamond syndrome examined with abdominal ...
Schwachman diamond syndrome : CT appearances.(Letter To Editor)(computed tomography)Shah, JPatil, SSainani, NPatkar, D
Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Schwachman-Diamond syndrome without evidence of myelod- ysplastic syndrome or acute myelogenous leukemia. Cancer Genet Cytogenet 1999; 115: 106-113.Sokolic RA, Ferguson W, Mark HFL. Discordant detection of monosomy 7 ...
We present the case of a 26-year-old Caucasian woman with Schwachman-Diamond syndrome with regard to her obstetric and gynaecology requirements, and in particular to her antenatal care across two pregnancies.VictoriaCordellLekeOsobaBMJBmj Case Reports...
Autoimmune Enteropathy and Schwachman-Diamond Syndrome: A Puzzling Dilemma: 1107Roach, EmirOlayan, MayAyvaz, SerkanShatnawei, AbdullahOfficial journal of the American College of Gastroenterology | ACG
Neonate with Schwachman-Diamond syndrome presenting with short long bones prenatally and postnatal features of osteopetrosisdoi:10.1016/S1096-7192(21)00188-8Sonia ThomasElsevier BVMolecular Genetics and Metabolism