Limb defects in homozygous α-thalassemia: Report of three cases

American Journal of Medical Genetics

Volumn 68, Issue 2, 1997, Pages 162-167

  Chitayat, David ^a,b   Silver, Meredith M ^b   O'Brien, Karel ^a   Wyatt, Phil ^c   Waye, John S ^d   Chiu, David H K ^d   Babul, Riyana ^b   Thomas, Micki ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c NORTH YORK GENERAL HOSPITAL   (Canada)

^d Chedocke McMaster Hospitals   (Canada)

Author keywords

thalassemia; ( (SEA)) deletion; CVS; fetal hypoxemia; limb defect

Indexed keywords

ALPHA THALASSEMIA; ARTICLE; CASE REPORT; FATALITY; FEMALE; GENE DELETION; HOMOZYGOSITY; HUMAN; HYPOPLASIA; LIMB DEFECT; MALE; NEWBORN; PRIORITY JOURNAL; SYNDACTYLY;

ADULT; ALPHA-THALASSEMIA; ANOXIA; EXTREMITIES; FEMALE; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; POLYMERASE CHAIN REACTION; PREGNANCY; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SYNDACTYLY;

EID: 0031050250     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970120)68:2<162::AID-AJMG8>3.0.CO;2-R     Document Type: Article

References (46)

1. Abuelo DN, Forman E (1994): Limb reduction defects in an infant with homozygous alpha-thalassemia. 26th March of Dimes Clinical Genetics Conference, p 135A.
2. Al-Awadi SA, Teebi AS, Farag TI, Naguib KM, Khalifa MY (1985): Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: A new syndrome. J Med Genet 22:36-38.
3. Beaudry MA, Ferguson DJ, Pearse K, Yanofsky RA, Rubin EM, Kan YW (1986): Survival of hydropic infant with homozygous alpha-thalassemia-1. J Pediatr 108:713-716.
4. Bianchi DW, Beyer EC, Stark AR, Saffan D, Sachs BP, Wolfe L (1986): Normal long-term survival with alpha-thalassemia. J Pediatr 108:716-718.
5. Bunyaratvej A, Fucharoen S, Tatsumi N (1992): Biophysical changes of red cells with thalassemia-like abnormal hemoglobin. Southeast Asian Tropic Med Publ Hlth 23:86-90.
6. Burton BK, Schulz CJ, Burd LI (1992): Limb anomalies associated with chorionic villus sampling. Obstet Gynecol 79:726-730.
7. Butthep P, Bunyaratvej A, Kitaguchi H, Funahara Y, Fucharoen S (1992): Interaction between endothelial cells and thalassemic red cells in-vitro. Southeast Asian Tropic Med Publ Hlth 23:101-104.
8. Carr S, Rubin L, Dixon D, Star J, Dailey J (1995): Intrauterine therapy for homozygous α-thalassemia. Obstet Gynecol 85:876-879.
9. Chan V, Ghosh A, Chan TK, Wong V, Todd D (1984): Prenatal diagnosis of homozygous α-thalassemia by direct DNA analysis of uncultured amniotic fluid cells: A preliminary experience. Br Med J 288:1327-1329.
10. Chitayat D, Meunier C, Hodgkinson KA, Azouz EM, Robb L (1992): Acrania: A manifestation of fetal vascular disruption; The Adams-Oliver syndrome. Am J Med Genet 44:562-566.
11. Chitayat D, Babul R, Wyatt P, Waye JS, O'Brian K, Chui DHK, Thomas M, Conacher S, Silver M (1994): Limb reduction defect in α-thalassemia homozygotes. Teratology 49:405A.
12. Froster-Iskenius VG, Baird PA (1989): Limb reduction defects in over one million consecutive live births. Teratology 39:127-135.
13. Fucharoen S, Winichagoon P (1992): Thalassemia in Soust East Asia: problems and strategy for prevention and control. Southeast Asian Tropic Med Publ Hlth 23:647-655.
14. Ghosh A, Tang MHY, Liang ST, Ma HK (1987): Ultrasound evaluation of pregnancies at risk for homozygous α-thalassemia-1. Pren Diag 7:307-313.
15. Gonzalez CH, Vargas FR, Perez AB, Kim CA, Bruononi D, Marques-Dias MJ, Leone CR, Correa Neto J, Lierena Junior JC, de Almeida JC (1993): Limb deficiency with or without Mobius sequence in seven Brazalian children associated with misoprostol use in the first trimester of pregnancy. Am J Med Genet 47:59-64.
16. Graham JM Jr, Miller ME, Stephan MJ, Smith MJ (1980): Limb reduction anomalies and early in utero limb compression. J Pediatr 96:1052-1056.
17. Harmon JV, Osathanondh R, Holmes LB (1995): Symmetrical terminal transverse limb defects: Report of twenty-week fetus. Teratology 51:237-242.
18. Higginbottom MC, Jones KL, Hall BS, Smith DW (1979): The amniotic band disruption complex: Timing of amniotic rupture and variable spectra of consequent defects. J Pediatr 95:544-549.
19. Holmes LB (1992): Limb deficiency defects among 125,000 newborn infants. Am J Hum Genet 51(suppl):A18.
20. Houben JJ (1984): Immediate and delayed effects of oligohydramnios on limb development in the rat: Chronology and specifity. Teratology 30:403-411.
21. Hoyme HE, Jones KL, Van Allen MI, Saunders BS, Benirschke K (1982): The vascular pathogenesis of transverse limb reduction defects. J. Pediatr 101:839-843.
22. Huehns ER, Farooqui AM (1975): Oxygen dissociation properties of human embryonic red cells. Nature 254:335-337.
23. Hughes HE, Goldstein DA (1988): Birth defects following maternal exposure to ergotamine, beta blockers, and caffeine. J Med Genet 25:396-399.
24. Kallen B, Rahmani TM, Winberg J (1984): Infant with congenital limb reduction registered in the Swedish Register of Congenital Malformation. Teratology 29:73-85.
25. Kanokpongsakdi S, Fucharoen S, Vatanasiri C (1990): Ultrasound method for detection of haemoglobin Bart's hydrops fetalis in the second trimester of pregnancy. Pren Diag 10:809-813.
26. Kazazian HH Jr (1990): The thalassemia syndrome: Molecular basis and prenatal diagnosis in 1990. Blood 27:209-228.
27. Lam TK, Chan V, Fok TF, Li CK, Feng CS (1992): Long-term survival of a baby with homozygous alpha-thalassemia-1. Acta Haematol 88:198-200.
28. Laosombat V, Wongchanchailert M, Kenpitak K, Wisitpongpon C (1992): Spontaneous platelet aggregation in thalassemic children and adolescents. Southeast Asian Tropic Med Publ Hlth 2:42-46.
29. Lauer J, Shen CKJ, Maniatis T (1980): The chromosomeal arrangement of human α-like globin genes: Sequence homology and α-globin gene deletions. Cell 20:119-130.
30. Liang ST, Wong VCW, So WWK, Ma HK, Chan V, Todd D (1985): Homozygous α-thalassemia: Clinical presentation, diagnosis and management: A review of 46 cases. Br J Obstet Gynecol 92: 680-684.
31. Nakayama R, Yamada D, Steinmiller V, Hsia E, Hale RW (1986): Hydrops fetalis secondary to Bart hemoglobinopathy. Obstet Gynecol 67:176-180.
32. Oliveri NF, Nathan DG, MacMillan JH, Wayne AS, Liu PP, McGee A, Martin M, Koren G, Cohen AR (1994): Survival in medically treated patients with homozygous beta-thalassemia. N Engl J Med 331:574-578.
33. Pastuszak AL, Levy M, Schick B, Zuber C, Feldkamp M, Gladstone J, Bar-Levy F, Jackson E, Donnenfeld A, Meschino W., et al. (1994): Outcome after maternal varicella infection in the first 20 weeks of pregnancy [see comments]. N Engl J Med 330: 901-905.
34. Petter C, Bourbon J, Maltier J-P, Jost A (1977): Simultaneous prevention of blood abnormalities and hereditary congenital amputations in a brachydactylous rabbit stock. Teratology 15: 149-158.
35. Raymond GV (1995): Teratogen update: Ergot and ergotamine. Teratology 51:344-347.
36. Rodeck CH (1993): Fetal development after chorionic villus sampling. Lancet 341:468-469.
37. Rosa FW, Wilk AL, Kelsey FO (1986): Teratogen update: Vitamin A congeners. Teratology 33:355-364.
38. Scott R (1991): Limb abnormalities after chorionic villus sampling. Lancet 1:1038-1039.
39. Stephens TD (1988): Proposed mechanisms of action in thalidomide embryopathy. Teratology 38:229-239.
40. Van Allen MI, Jackson JC, Knopp RH, Cone R (1989): In utero thrombosis and neonatal gangrene in an infant of a diabetic mother. Am J Med Genet 33:323-327.
41. Van Allen MI (1981): Fetal vascular disruptions: Mechanisms and some resulting birth defects. Pediatr Ann 10:219-233.
42. Van Allen MI (1992): Structural anomalies resulting from vascular disruption. Ped Clin North Am 39:255-277.
43. Weatherall DJ, Clegg DR, Wood WG (1995). The Hemoglobinopathies. Scriver et al., (ed): "The Metabolic Basis of Inherited Disease." New York: McGraw Hill, pp 3418-3427.
44. Weatherall DJ (1995). "The Thalassemias in Hematology." Beutler E et al. (ed): New York: McGraw-Hill, pp 599.
45. Wulfsberg EA, Mirkinson LJ, Meister SJ (1993): Autosomal dominant tetramelic postaxial oligodactyly. Am J Med Genet 46:549-583.
46. Zimmer EZ, Taub E, Sona Y, Divon MY, Pery M, Perets BA (1985): Tetra-amelia with multiple malformations in six male fetuses of one kindred. Eur J Ped 144:412-414.