Prenatal diagnosis of Blackfan-Diamond syndrome: Case report and review of the literature

Prenatal Diagnosis

Volumn 16, Issue 4, 1996, Pages 349-353

  Mclennan, Andrew C ^a   Chitty, Lyn S ^a   Rissik, Judy ^a   Maxwell, Darryl J ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

Aase congenital anaemia; Blackfan Diamond syndrome; Congenital hypoplastic anaemia; Cordocentesis; Echocardiography; Prepregnancy counselling

Indexed keywords

STEROID;

ADULT; ARTICLE; BLACKFAN DIAMOND ANEMIA; CASE REPORT; CLINICAL FEATURE; CORDOCENTESIS; DELIVERY; ECHOCARDIOGRAPHY; FEMALE; FETUS ECHOGRAPHY; FETUS HYDROPS; HUMAN; INTRAUTERINE BLOOD TRANSFUSION; MEDICAL LITERATURE; PARENT COUNSELING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

HYDROPS;

EID: 0029989097     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1097-0223(199604)16:4<349::aid-pd854>3.0.co;2-#     Document Type: Article

References (15)

1. Balaban, E.P., Buchanan, G.R., Graham, M., Frenkel, E.P. (1985). Diamond-Blackfan syndrome in adult patients. Am. J. Med. Genet., 78, 533-538.
2. Benediktsson, R., Lindsay, R., Noble, J., Seckl, J.R., Edwards, C.R.W. (1993). Glucocorticoid exposure in utero: a new model for adult hypertension. Lancet, 341, 339-341.
3. Blanford, A.T., Murphy, B.E. (1977). In vitro metabolism of predisolone, dexamethasone, betamethasone and cortisol by the human placenta, Am. J. Obstet. Gynecol., 127, 264-267.
4. Diamond, L.K., Blackfan, K.D. (1938). Hypoplastic anaemia, Am. J. Dis. Child., 56, 464-467.
5. Freedman, M.H. (1985). Blackfan-Diamond anaemia. Neonatal presentation as Rh incompatibility, haemolysis and active erythropoiesis, Am. J. Pediatr. Hematol.-Oncol., 7, 327-330.
6. Halperin, D.S., Freedman, M.H. (1989). Diamond-Blackfan anemia: etiology, pathophysiology, and treatment (Review), Am. J. Pediair. Hematol.-Oncol., 11, 380-394.
7. Hamilton, P.J., Dawson, A.A., Galloway, W.H. (1974). Congenital erythroid hypoplastic anaemia in mother and daughter, Arch. Dis. Child., 49, 71-73.
8. Hunter, R.E., Hakami, N. (1972). The occurrence of congenital hypoplastic anemia in half brothers, J. Pediatr., 81, 346-348.
9. Hurst, J.A., Baraitser, M., Wonke, B. (1991). Autosomal dominant transmission of congenital erythroid hypoplastic anaemia with radial abnormalities. Am. J. Med. Genet., 40, 482-484.
10. Rijhsinghani, A., Weichert, R.J. (1994). Diamond-Blackfan anaemia in pregnancy, Obstet Gynecol., 83, 827-829.
11. Scimeca, P.G., Weinblatt, M.E., Slepowitz, G., Harper, R.G., Kochen, J.A. (1988). Diamond-Blackfan syndrome: an unusual case of hydrops fetalis, Am. J. Pediatr. Hematol.-Oncol., 10, 241-243.
12. Snyder, T.E., Lee, L.P., Lynch, S. (1991). Pregnancy-associated hypoplastic anemia: a review, Obstet. Gynecol. Surv., 46, 264-269.
13. Tsai, P.M., Arkin, S., Lipton, J.M. (1989). An intrinsic progenitor defect in Diamond-Blackfan anaemia, Br. J. Haematol., 73, 112-120.
14. Viskochil, D.H., Carey, J.C., Glader, B.E., Rothstein, G., Christensen, R.D. (1990). Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred, Am. J. Med. Genet., 35, 251-256.
15. Visser, G.H.A., Desmedt, M.C.H., Meijboom, E.J. (1988) Altered cardiac flow patterns in pure red cell anaemia (the Blackfan-Diamond syndrome), Prenat. Diagn., 8, 525-529.