Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

BMC Pediatrics

Volumn 12, Issue , 2012, Pages

  Keogh, Steven J ^a   McKee, Shane ^b   Smithson, Sarah F ^c   Grier, David ^a   Steward, Colin G ^a,d  

^a UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

^c ST MICHAEL'S HOSPITAL   (United Kingdom)

^d SCHOOL OF MEDICAL SCIENCES   (United Kingdom)

Author keywords

Asphyxiating thoracic dystrophy; Differential diagnosis; Haematopoietic stem cell transplantation; Isochromosome 7q; Jeune syndrome; Neonatal respiratory distress; Pancreatic insufficiency; Shwachman Diamond syndrome

Indexed keywords

ALEMTUZUMAB; ALPHA TOCOPHEROL; ANTIBIOTIC AGENT; CHYMOTRYPSIN; FLUDARABINE; HEMOGLOBIN; MELPHALAN; METHYLPREDNISOLONE; OKT 3; RETINOL; SUCCIMER;

ABDOMINAL DISCOMFORT; ABDOMINAL PAIN; APGAR SCORE; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BONE DYSPLASIA; BONE MARROW BIOPSY; BONE MARROW DEPRESSION; BONE MARROW EXAMINATION; BONE RADIOGRAPHY; BREATHING RATE; CASE REPORT; CELLULITIS; CHILD; CHIMERA; COXA VALGA; COXA VARA; CYTOGENETICS; DIAGNOSTIC ERROR; DIALYSIS; DIFFERENTIAL DIAGNOSIS; DONOR LYMPHOCYTE INFUSION; DRUG MEGADOSE; DYSTROPHY; EPIGLOTTITIS; ERYTHROCYTE CONCENTRATE; ERYTHROCYTE TRANSFUSION; FAMILY HISTORY; FAMILY STUDY; FECES ANALYSIS; FEMALE; FEVER; GENE DELETION; GENE MUTATION; GRAFT REJECTION; HEAD CIRCUMFERENCE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMATURIA; HEMOLYTIC UREMIC SYNDROME; HEPATOMEGALY; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; JEUNE SYNDROME; LEARNING DISORDER; LYMPHADENOPATHY; MENINGOCOCCOSIS; METAPHYSIS; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; NEUTROPHIL COUNT; NEWBORN HYPOXIA; NEWBORN SEPSIS; OXYGEN MASK; PANCYTOPENIA; PATIENT REFERRAL; PERIANAL ABSCESS; PURPURIC RASH; SCHOOL CHILD; SEPTICEMIA; SHORT STATURE; SHWACHMAN SYNDROME; TACHYPNEA; THORAX DEFORMITY; THORAX RADIOGRAPHY; THROMBOCYTE COUNT; THROMBOCYTE TRANSFUSION; TREATMENT RESPONSE; ULTRASOUND; VITAMIN DEFICIENCY; VOMITING;

EID: 84860357545     PISSN: None     EISSN: 14712431     Source Type: Journal    
DOI: 10.1186/1471-2431-12-48     Document Type: Article

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