Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population

American Journal of Medical Genetics

Volumn 118 A, Issue 2, 2003, Pages 135-145

  Orioli, Iêda M ^a   Ribeiro, Márcia G ^a   Castilla, Eduardo E ^b,c  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b INSTITUTO OSWALDO CRUZ   (Brazil)

^c CEMIC   (Argentina)

Author keywords

Amniotic band; Congenital annular constricting bands; Congenital constriction band; Limb body wall complex; Limb reduction; Ring constriction

Indexed keywords

ADHESION; AMNION BAND; AMNION BAND SYNDROME; ARTICLE; CLEFT LIP PALATE; COLOBOMA; CRANIOFACIAL MALFORMATION; DISEASE PREDISPOSITION; DOWN SYNDROME; ETHNIC GROUP; FEMALE; FINGER MALFORMATION; GESTATIONAL AGE; HUMAN; INFANT; LIMB MALFORMATION; LOW BIRTH WEIGHT; MAJOR CLINICAL STUDY; MALE; MATERNAL AGE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PHENOTYPE; POLYDACTYLY; POPULATION RESEARCH; PREMATURITY; PREVALENCE; PRIORITY JOURNAL; PTERYGIUM; RISK FACTOR; SOUTH AMERICA; SYNDACTYLY; TOE MALFORMATION; FAMILY HEALTH; GENETICS; PATHOLOGY;

CEPHALOCHORDATA;

ABNORMALITIES, MULTIPLE; AMNIOTIC BAND SYNDROME; FAMILY HEALTH; FEMALE; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; PHENOTYPE; PREVALENCE; RISK FACTORS; SOUTH AMERICA;

EID: 0037487184     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10194     Document Type: Article

References (45)

1. Baker CJ, Rudolph AJ. 1971. Congenital ring constrictions and intrauterine amputations. Am J Dis Child 212:393-400.
2. Bamforth JS. 1992. Amniotic band sequence: Streeter hypothesis revisited. Am J Med Genet 44:280-287.
3. Bodamer OA, Popeck EJ, Bacino C. 2001. Atypical presentation of amniotic band sequence. Am J Med Genet 100:100-102.
4. Castilla EE, Lopez-Camelo JS. 1990. The surveillance of birth defects in South America: The search for time clusters: Epidemics. Adv Mutagen Res 2:191-210.
5. Castilla EE, Orioli IM. 1983. El Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMC/MONITOR. Interciencia 8:271-278.
6. Castilla EE, Lopez-Camelo JS, Campaña H. 1999. The altitude as a risk factor for congenital anomalies. Am J Med Genet 86:9-14.
7. Clavert JM, Clavert A, Issa WN, Buck P. 1980. Experimental approach to the pathogenesis of the anomalies of amniotic disease. J Pediatr Surg 15:63-66.
8. Czeizel AE, Vitéz M, Kodaj I, Lenz I. 1993. Study of isolated apparent amniogenic limb deficiency in Hungary, 1975-1984. Am J Med Genet 46:372-378.
9. Donai D, Winter RM. 1989. Disorganisation: A model for "early amnion rupture." J Med Genet 26:421-425.
10. Etches PC, Stewart AR, Ives EJ. 1982. Familial congenital amputations. J Pediatr 101:448-449.
11. Foukes GD, Reinker K. 1994. Congenital constriction band syndrome: A seventy-year experience. J Pediatr Orthop 14:242-248.
12. Froster UG, Baird PA. 1993. Amniotic band sequence and limb defects: data from a population-based study. Am J Med Genet 46:497-500.
13. Garza A, Cordero JF, Mulinare J. 1987. Epidemiology of the early amnion rupture spectrum of defects, Atlanta, 1968-1982. Proc Greenwood Genet Ctr 6:127-128.
14. Gellis SS. 1977. Constrictive bands in humans. Birth Defects 13:259-268.
15. Hall BD. 1985. Gestational, delivery, neonatal and postnatal analysis of 39 cases of amnion rupture sequence. Proc Greenwood Genet Ctr 5:148.
16. Hanhart E. 1947. Zur Genetik einiger Deformitäten ikrotie, Peromelie), pollux varus, hydrocephalie, mikrocephalie) und zur Genese sog. amniotischer Abschnurungen. Arch Klaus Stift Vererbungsforsch 22:326.
17. Hartwig NG, Vermeij-Keers CHR, De Vries HE, Kagie M, Kragt H. 1989. Limb body wall malformation complex. Hum Pathol 20:1071-1077.
18. Hermann J, Opitz JM. 1974. Studies on malformation syndromes of man. IV. Naming and nomenclature of syndromes. March of Dimes Birth Defects. Orig Artic Ser X:69-86.
19. Hummel KP. 1959. Developmental anomalies in mice resulting from action of the gene Disorganization, a semidominant lethal. Pediatrics 23:212-221.
20. Hunter AGW. 2000. A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations. Clin Genet 57:97-204.
21. Hunter AGW, Carpenter BF. 1986. Implications of malformations not due to amniotic bands in the amniotic band sequence. Am J Med Genet 24:691-700.
22. Källén B. 1988. Epidemiology of human reproduction. Boca Raton, Florida: CRC Press, Inc. p 31-35.
23. Keller H, Neuhauser G, Durkin-Stamm MV, Kaveggia EG, Schaaff A, Sitzmann F. 1978. (ADAM complex) (amniotic deformity, adhesions, mutilations): A pattern of craniofacial and limb defects. Am J Med Genet 2:81-98.
24. Kennedy LA, Persaud TVN. 1977. Pathogenesis of developmental defects induced in the rat by amniotic sac puncture. Acta Anatomica 97:23-35.
25. Kino Y. 1975. Clinical and experimental studies of the congenital constriction band syndrome, with emphasis on its etiology. J Bone Joint Surg 57A:636-643.
26. Lenz W. 1977. Comment on Gellis SS: Constrictive bands in humans. Birth Defects Orig Artic Ser XIII(1):259-268.
27. Liascovich R, Castilla EE, Rittler M. 2001. Consanguinity in South America: Demographic aspects. Hum Heredity 51:27-34.
28. Lopez-Camelo JS, Orioli IM. 1996. Heterogeneous rates for birth defects in Latin America: Hints on causality. Genet Epidemiol 13:451-468.
29. Lubinsky M, Sujansky E, Sanger W, Salyard P, Severn C. 1983. Familial amniotic bands. Am J Med Genet 14:81-87.
30. Martínez-Frías ML. 1997. Epidemiological characteristics of amniotic band sequence (ABS) and body wall complex (BWC): Are they two different entities? Am J Med Genet 73:176-179.
31. Martínez-Frias ML, Bermejo E, Rodríguez-Pinilla E. 2000. Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: Comparative epidemiology. Am J Med Genet 92:13-18.
32. McGuirk CK, Westgate MN, Holmes LB. 2001. Limb deficiencies in newborn infants. Pediatrics 108(4):E64.
33. Orioli IM, Castilla EE. 2000. Epidemiological assessment of misoprostol teratogenicity. Br J Obstet Gynecol 107:519-523.
34. Ossipoff V, Hall BD. 1977. Etiologic factors in the amniotic band syndrome: A study of 24 patients. March of Dimes Birth Defects: Orig Artic Ser XIII 3D:117-132.
35. Potter EL, Craig JM. 1975. Pathology of the fetus and the infant. Chicago: Year Book Medical Publishers.
36. Risch N. 1990. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 46:222-228.
37. Seeds JW, Cafalo RC, Herbert WNP. 1982. Amniotic band syndrome. Am J Obstet Gynecol 144:243-248.
38. Shaw GM, Wasserman CR, Lammer EJ, O'Malley CD, Murray JC, Basrt AM, Tolarova MM. 1996. Orofacial clefts, parental cigarrete smoking, and transforming growth factor-alpha gene variants. Am J Hum Genet 58:551-561.
39. Streeter GL. 1930. Focal deficiencies in fetal tissues and their relation to intrauterine amputations. Contrib Embryol Carnegie Inst 22:1-44.
40. Temtamy SA, McKusick VA. 1978. The genetics of hand malformations. New York: Alan R Liss.
41. Torpin R. 1965. Amniochorionic mesoblast fibrous strings and amniotic bands. Am J Obstet Gynecol 91:65-75.
42. Van Allen MI, Curry C, Gallagher L. 1987a. Limb body wall complex. I. Pathogenesis. Am J Med Genet 28:529-548.
43. Van Allen MI, Curry C, Walden CE, Gallagher L, Patten RM. 1987b. Limb body wall complex. II. Limb and spine defects. Am J Med Genet 28:549-565.
44. Van der Put NMJ, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ. 1995. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070-1071.
45. Wehbeh H, Fleisher J, Karimi A, Mathony A, Minkoff H. 1993. The relationship between the ultrasonographic diagnosis of innocent amniotic band development and pregnancy outcomes. Obstet Gynecol 81:565-568.