Concordant partial urorectal septum malformation sequence in monozygotic twins [4]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 24, 2006, Pages 2828-2831

  Lubusky, Marek ^a   Prochazka, Martin ^a   Dhaifalah, Ishraq ^a   Halek, Jan ^a   Mickova, Ivana ^a   Santavy, Jiri ^a  

^a UNIVERSITY HOSPITAL OLOMOUC   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

HOX PROTEIN; RETINOIC ACID; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI1;

AMNION; ANORECTAL MALFORMATION; ANUS; ANUS ATRESIA; AUTOSOMAL DOMINANT INHERITANCE; BIOMETRY; BLASTOCYST; CASE REPORT; CLINICAL FEATURE; CLOACA; COLON MALFORMATION; DEVELOPMENTAL DISORDER; ECHOGRAPHY; EMBRYOLOGY; ENTEROPATHY; GENE EXPRESSION REGULATION; GENE MUTATION; HUMAN; INTESTINAL DYSMOTILITY; KARYOTYPING; LETHALITY; LETTER; LUNG HYPOPLASIA; MESODERM; MONOZYGOTIC TWINS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERINEUM; PLACENTA; PRENATAL SCREENING; PRIMITIVE STREAK; PRIORITY JOURNAL; PROGNOSIS; SEX RATIO; TERATOGENESIS; TWIN CONCORDANCE; UMBILICAL MALFORMATION; UROGENITAL TRACT MALFORMATION; URORECTAL SEPTUM MALFORMATION SEQUENCE; X CHROMOSOME RECESSIVE INHERITANCE;

DISEASES IN TWINS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; PREGNANCY; RECTUM; TWINS, MONOZYGOTIC; UROGENITAL ABNORMALITIES;

EID: 33845249689     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31523     Document Type: Letter

References (21)

1. Achiron R, Frydman M, Lipitz S, Zalel Y. 2000. Urorectal septum malformation sequence: Prenatal sonographic diagnosis in two sets of discordant twins. Ultrasound Obstet Gynecol 16:571-574.
2. Alles AJ, Sulik KK. 1993. A review of caudal dysgenesis and its pathogenesis as illustrated in an animal model. Birth Defects 29:83-102.
3. Chang BE, Blader P, Fischer N, Ingham PW, Strahle U. 1997. Axial (HNF3beta) and retinoic acid receptors are regulators of the zebrafish sonic hedgehog promoter. EMBO J 16:3955-3964.
4. De Lia JE. 1990. Placental and fetal development. In: Scott JR, Diasaia PJ, Hammond CB, Spellacy WN, editors. Danforth's obstetrics and gynecology. JB Philadelphia: Lippincott. p 107-108.
5. Escobar LF, Weaver DD, Bixler D, Hodes ME, Mitchel M. 1987. Urorectal septum malformation sequence: Report of six cases and embryological analysis. Am J Dis Child 141:1021-1024.
6. Jo Mauch T, Albertine KH. 2002. Urorectal septum malformation sequence: Insights into pathogenesis. Anat Rec 268:405-410.
7. Mesrobian HGJ, Sessions RP, Lloyd RA, Sulik KK. 1994. Cloacal and urogenital abnormalities induced by etretinate in mice. J Urol 152:675-678.
8. Mills PL, Pergament E. 1997. Urorectal septal defects in a female and her offspring. Am J Med Genet 70:250-252.
9. Mo R, Kim JH, Zhang J, Chiang C, Hui CC, Kim PC. 2001. Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol 159:765-774.
10. Moribe H, Takagi T, Kondoh H, Higashi Y. 2000. Suppression of polydactyly of the Gli3 mutant (extra toes) by deltaEF1 homozygous mutation. Dev Growth Differ 42:367-376.
11. Nievelstein RAJ, Van der Werff JFA, Verbeek FJ, Valk J, Vemeij-Keers C. 1998. Normal and abnormal embryonic development of the anorectum in human embryos. Teratology 57:70-78.
12. Pauli RM. 1994. Lower mesodermal defects: A common cause of fetal and early neonatal death. Am J Med Genet 50:154-172.
13. Petrikovski BM, Walzak MP, Addario PF. 1988. Fetal cloacal anomalies: Prenatal sonographic findings and differential diagnosis. Obstet Gynecol 72:464-467.
14. Robinson HB, Tross K. 1984. Agenesis of the cloacal membrane. A probable teratogenic anomaly. Perspect Pediatr Pathol 1:79-96.
15. Sadler TW. 1990. Langman's medical embryology. 6th edition. Baltimore: Williams and Wilkins. p 237-295.
16. Sepuvelda W, Romero R, Quersi F, Greb EA, Cotton DB. 1994. Prenatal diagnosis of enterolithiasis: A sign of fetal large bowel obstruction. J Ultrasound Med 13:581-585.
17. Stephens FD. 1988. Embryology of the cloaca and embryogenesis of anorectal malformation. Birth Defects 24:177-209.
18. Warot X, Fromental-Ramain C, Fraulob V, Chambon P, Dolle P. 1997. Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts. Development 124:4781-4791.
19. Wei X, Sulik KK. 1996. Pathogenesis of caudal dysgenesis/sirenomelia induced by ochratoxin A in chick embryos. Teratology 53:378-391.
20. Wheeler PG, Weaver DD. 2001. Partinal urorectal septum malformation sequence: A report of 25 cases. Am J Med Genet 103:99-105.
21. Wheeler PG, Weaver DD, Obeime MO, Vance GH, Bull MJ, Escobar LF. 1997. Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature. Am J Med Genet 73:456-462.