Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

Pediatric Blood and Cancer

Volumn 51, Issue 1, 2008, Pages 123-124

  Black, L Vandy ^a,d   Soltau, Thomas ^b   Kelly, David R ^c   Berkow, Roger L ^a  

^a Heerskink School of Medicine   (United States)

^b University of Alabama at Birmingham   (United States)

^c University of Alabama at Birmingham   (United States)

^d CHILDREN S HOSPITAL OF ALABAMA   (United States)

Author keywords

Bone marrow failure syndromes; Congenital neutropenia; Premature infants; Shwachman Diamond

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; RECOMBINANT ERYTHROPOIETIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD TRANSFUSION; BONE MARROW DEPRESSION; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL EXAMINATION; FAILURE TO THRIVE; FEMALE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; NEWBORN; PANCREAS EXOCRINE INSUFFICIENCY; PANCYTOPENIA; PREMATURITY; PRIORITY JOURNAL; RARE DISEASE; SHWACHMAN SYNDROME; SMALL FOR DATE INFANT; TREATMENT OUTCOME;

BONE MARROW DISEASES; FATAL OUTCOME; FEMALE; GRANULOCYTE COLONY-STIMULATING FACTOR; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; MUTATION; PANCYTOPENIA; SYNDROME;

EID: 44149092208     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.21550     Document Type: Article

References (12)

1. Dror Y. Review: Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005;45:892-901.
2. Kuijpers TW, Nannenberg E, Alders M, et al. Congenital aplastic anemia caused by mutations in the SBDS gene: A rare presentation of Shwachman-Diamond syndrome. Pediatrics 2004;114:387-391.
3. Goobie S, Popovic M, Morrison J, et al. Shwachman-Diamond syndrome with pancreatic exocrine dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet 2001;68:1048-1054.
4. Boocock GR, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003;33:97-101.
5. Lai CH, Chou CY, et al. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Genome Res 2000;10:703-713.
6. Dokal I, Rule S, Chen F, et al. Adult onset of acute myeloid leukemia (M6) in patients with Shwachman-Diamond syndrome. Br J Haematol 1997;99:171-173.
7. Dror Y, Thornley I, Sung L, et al. Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome. Br J Haematol 2002;117:189-192.
8. Woods WG, Krivit W, Lubin BH, et al. Aplastic anemia associated with Shwachman syndrome. In vivo and in vitro observations. Am J Pediatr Hematol Oncol 1981;3:347-351.
9. Dror Y, Freedman MH. Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty microenvironment. Blood 1999;94:3048-3054.
10. Alter PB. Shwachman-Diamond syndrome. In: Nathan DG, Orkin SH, editors. Nathan and Oski's Hematology of Infancy and Childhood. 6th edition, Vol. 1. Philadelphia: WB Saunders; 2003. pp 306-309.
11. Rothbaum R, Perrault J, Vlachos A, et al. Shwachman-Diamond syndrome: Report from an international conference. J Pediatr 2002;141:266-270.
12. Cunningham J, Sales M, Pearce A, et al. Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome? Br J Haematol 2002;119:1062-1069.