Severe lower limb defects in exstrophy of the cloaca

American Journal of Medical Genetics

Volumn 128 A, Issue 3, 2004, Pages 320-324

  Jain, Mahim ^a   Weaver, David D ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital limb defects; Exstrophy of the cloaca; OEIS complex

Indexed keywords

ANUS ATRESIA; ARTICLE; BLADDER EXSTROPHY; CASE REPORT; CESAREAN SECTION; CLOACA; COLOSTOMY; DIGESTIVE SYSTEM MALFORMATION; DISEASE ASSOCIATION; FETUS; FETUS ECHOGRAPHY; FOOT RADIOGRAPHY; HUMAN; ILEOSTOMY; INGUINAL HERNIA; LEG AMPUTATION; LEG PROSTHESIS; LIMB MALFORMATION; MALE; MESODERM; MULTIPLE MALFORMATION SYNDROME; OMPHALOCELE; ORCHIDOPEXY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCOLIOSIS; SPINE RADIOGRAPHY; UROGENITAL TRACT MALFORMATION;

ENTEROBACTER;

EID: 3042767907     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30103     Document Type: Article

References (32)

1. Austin PF, Homsy YL, Gearhart JP, Porter K, Guidi C, Madsen K, Maizels M. 1998. The prenatal diagnosis of cloacal exstrophy. J Urol 160:1179-1181.
2. Balog B, Skinner SR. 1984. Unilateral duplication of the femur associated with myelomeningocele. J Pediatr Orthop 4:488-490.
3. Bruch SW, Adzick NS, Goldstein RB, Harrison MR. 1996. Challenging the embryogenesis of cloacal exstrophy. J Pediatr Surg 31:768-770.
4. Chen CP, Shih SL, Liu FF, Jan SW, Jeng CJ, Lan CC. 1997. Perinatal features of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS complex) associated with large meningomyeloceles and severe limb defects. Am J Perinat 14:275-279.
5. Diamond DA, Jeffs RD. 1985. Cloacal exstrophy: A 22-year experience. J Urol 133:779-782.
6. Evans JA, Chudley AE. 1999. Tibial agenesis, femoral duplication, and caudal midline anomalies. Am J Med Genet 85:13-19.
7. Evans JA, Vitez M, Czeizel A. 1994. Congenital abnormalities associated with limb deficiency defects: A population study based on cases from the Hungarian congenital malformation registry (1975-1984). Am J Med Genet 49:52-66.
8. Fujiyoshi Y, Nakamura Y, Cho T, Nishimura T, Morimatsu M, Shirouzu K, Fukuda S, Kimura T, Nakashima H, Hashimoto T. 1987. Exstrophy of the cloacal membrane. A pathologic study of four cases. Arch Path Labor Med 111:157-160.
9. Girz BA, Sherer DM, Atkin J, Venanzi M, Ahlborn L, Cestone L. 1998. First-trimester prenatal sonographic findings associated with OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex: A case and review of the literature. Am J Perinat 15:15-17.
10. Hamada H, Takano K, Shiina H, Sakai T, Sohda S, Kubo T. 1999. New ultrasonographic criterion for the prenatal diagnosis of cloacal exstrophy: Elephant trunk-like image. J Urol 162:2123-2124.
11. Hayden PW, Chapman WH, Stevenson JK. 1973. Exstrophy of the cloaca. Am J Dis Child 125:879-83.
12. Hurwitz RS, Mazoni GA, Ransley PG, Stephens FG. 1987. Cloacal exstrophy: A report of 34 cases. J Urol 138:1060-1064.
13. Kano K, Ichimura T. 1997. Markedly delayed linear growth in a child with cloacal exstrophy, Brit J Urol 79:989-990.
14. Keppler-Noreuil KM. 2001. OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): A review of 14 cases. Am J Med Genet 99:271-279.
15. Liang X, Ioffe OB, Sun CC. 1998. Cloacal dysgenesis sequence: Observations in four patients including three fetuses of second trimester gestation. Pediatr Dev Pathol 1:281-288.
16. Martinez-Frias ML, Frias JL, Opitz JM. 1998. Errors of morphogenesis and developmental field theory. Am J Med Genet 76:291-296.
17. Mathews R, Jeffs RD, Reiner WG, Docimo SG, Gearhart JP. 1998. Cloacal exstrophy-improving the quality of life: The Johns Hopkins experience. J Urol 160:2452-2456.
18. McLaughlin KP, Rink RC, Kalsbeck JE, Keating MA, Adams MC, King SJ, Luerssen TG. 1995. Cloacal exstrophy: The neurological implications. J Urol 154:782-784.
19. Meglin AJ, Balotin RJ, Jelinek JS, Fishman EK, Jeffs RD, Ghaed V. 1990. Cloacal exstrophy: Radiologic findings in 13 patients. Am J Roentgenol 155:1267-1272.
20. Meizner I, Levy A, Barnhard Y. 1995. Cloacal exstrophy sequence: An exceptional ultrasound diagnosis. Obstet Gynecol 86:446-450.
21. Moore CA, Weaver DD. 1990. Exstrophy of the cloaca sequence. In: Byse ML, editor. Birth defects encyclopedia: The comprehensive, systematic, illustrated reference source for the diagnosis, delineation, etiology, biodynamics, occurrence, prevention, and treatment of human anomalies of clinical relevance. Cambridge: Blackwell Scientific Publications. p 648.
22. Nye JS, Hayes EA, Amendola M, Vaughn D, Charrow J, McLone DG, Speer MC, Nance WE, Pandya A. 2000. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology 61:165-171.
23. Ogden JA. 1976. Ipsilateral femoral bifurcation and tibial hemimelia. J Bone Jt Surg Am Vol 58:712-713.
24. Pauli RM. 1994. Lower mesodermal defects: A common cause of fetal and early neonatal death. Am J Med Genet 50:154-172.
25. Pfeiffer RA, Suess J, Schrott KM. 1990. Femoral duplication and the developmental field. Am J Med Genet 36:521-522.
26. Pinette MG, Pan YQ, Pinette SG, Stubblefield PG, Blackstone J. 1996. Prenatal diagnosis of fetal bladder and cloacal exstrophy by ultrasound. A report of three cases. J Reprod Med 41:132-134.
27. Reddy RA, Bharti B, Singhi SC. 2003. Cloacal exstrophy. Arch Dis Child 88:277.
28. Robin NH, Neidich JA, Bason LD, Whitaker LA, McDonald-McGinn D, Hunter J, Snyder HM, Zackai EH. 1996. Frontonasal malformation and cloacal exstrophy: A previously unreported association. Am J Med Genet 61:75-78.
29. Shanske AL, Pande S, Aref K, Vega-Rich C, Brion L, Reznik S, Timor-Tritsch IE. 2003. Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS. Birth Defects Res Pt A 67:467-471.
30. Shum L, Coleman CM, Hatakeyama Y, Tuan RS. 2003. Morphogenesis and dysmorphogenesis of the appendicular skeleton. Birth Defects Res Part C 69:102-122.
31. Silver RI, Sponseller PD, Gearhart JP. 1999. Staged closure of the pelvis in cloacal exstrophy: First description of a new approach. J Urol 161:263-266.
32. Zarabi CM, Rupani M. 1986. A hypothesis on the allantoic origin of the distal midgut. Anat Rec 215:65-70.