Clefting, amniotic bands, and polydactyly: A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence

American Journal of Medical Genetics

Volumn 137 A, Issue 3, 2005, Pages 298-301

  Robin, Nathaniel H ^a,b   Franklin, Judith ^a   Prucka, Sandra ^a   Ryan, Ashley B ^a   Grant, John H ^b,c  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b University of Alabama at Birmingham   (United States)

^c Kentucky   (United States)

Author keywords

Disorganization; Hay wells; p63; Polydactyly

Indexed keywords

INTERFERON REGULATORY FACTOR 6; PROTEIN P63; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

AMNION BAND SYNDROME; ARTICLE; BIRTH DEFECT; CASE REPORT; CLEFT LIP; CLEFT PALATE; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DISORGANIZATION GENE; FEMALE; GENE; GENE MUTATION; HUMAN; INFANT; IRF6 GENE; P63 GENE; PHENOTYPE; POLYDACTYLY; POLYTHELIA; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SKIN DEFECT; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; AMNIOTIC BAND SYNDROME; CLEFT LIP; CLEFT PALATE; CYCLIN-DEPENDENT KINASE INHIBITOR P16; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; INTERFERON REGULATORY FACTORS; KARYOTYPING; MUTATION; PHENOTYPE; POLYDACTYLY; SYNDROME; TRANSCRIPTION FACTORS;

EID: 24344471643     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30885     Document Type: Article

References (28)

1. Al-Qattan MM. 2000. Classification of the pattern of intrauterine amputations of the upper limb in constriction ring syndrome. Ann Plast Surg 44:626-632.
2. Bamforth JS. 1992. Amniotic band sequence: Streeter's hypothesis reexamined. Am J Med Genet 44:280-287.
3. Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SE, Gorlin R, Murray JC. 2002. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet 39:559-566.
4. Bronshetin M, Zimmer V. 1997. Do amniotic bands amputate fetal organs? Ultrasound Obstet Gynecol 10:309-311.
5. Carey JC, Greenbaum B, Hall BD. 1978. The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects Orig Artic Ser 14(6B):253-263.
6. Chen C-P, Chang T-Y, Lin Y-H, Wang W. 2004. Prenatal sonographic diagnosis of acrania associated with amniotic bands. J Clin Ultra 32:256-260.
7. Crosby JL, Varnum DS, Nadeau JH. 1993. Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation. Am J Hum Genet 52:8660874.
8. Donnai D, Winter RM. 1989. Disorganisation: A model for 'early amnion rupture'? J Med Genet 26:421-425.
9. Graham JM Jr, Higginbottom MC, Smith DW. 1981. Preaxial polydactyly of the foot associated with early amnion rupture: Evidence for mechanical teratogenesis? J Ped 98:943-945.
10. Guion-Almeida ML, Richieri-Costa A. 2000. Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome. Clin Dysmorphol 9:297-299.
11. Harrison IM, Brosnahan D, Phelan E, Fitzgerald RJ, Reardon W. 2004. Septo-optic dysplasia with digital anomalies - A recurrent pattern syndrome. Am J Med Genet A 131:82-85.
12. Higginbottom MC, Jones KL, Hall BD, Smith DW. 1979. The amniotic band disruption complex: Timing of amniotic rupture and variable spectra of consequent defects. J Pediatr 95:544-549.
13. Hunter AG, Carpenter BF. 1986. Implications of malformations not due to amniotic bands in the amniotic band sequence. Am J Med Genet. 24:691-700.
14. Jabor MA, Cronin ED. 2000. Bilateral cleft lip and palate and limb deformities: A presentation of amniotic band sequence? J Craniofac Surg. 11:388-393.
15. Knudsen AG. 1971. Mutation and cancer: Statistical study of retinoblastoma. Proc Nat Acad Sci USA 68:820-823.
16. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. 2002. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32:285-289.
17. Leek GD, Aird JC. 1984. An incomplete form of the popliteal pterygium syndrome? Br Dent J 157:318-319.
18. Marazita ML, Mooney MP. 2004. Current concepts in the embryology and genetics of cleft lip and cleft palate. Clin Plast Surg 31:125-140.
19. McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. 2001. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 10:221-229.
20. Orioli IM, Ribeiro MG, Castilla EE. 2003. Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population. Am J Med Genet A 118:135-145.
21. Pagon RA. 1987. Congenital anomalies and aberrant tissue bands. Am J Med Genet 27:491.
22. Rayan GM. 2001. Ectopic implantation of constriction band intrauterine digital amputation. Plast Reconstr Surg 107:1000-1002.
23. Robin NH, Abbadi N, McCandless SE, Nadeau JH. 1997. Disorganization in mice and humans and its relation to sporadic birth defects. Am J Med Genet 73:425-436.
24. Robin NH, Nadeau JH. 2001. Disorganization in mice and humans. Am J Med Genet 101:334-338.
25. Seeds JW, Cefalo RC, Herbert WNP. 1982. Amniotic band syndrome. Am J Obstet Gyn 144:243-248.
26. Streeter GL. 1930. Focal deficiencies in fetal tissues and their relation to intrauterine amputations. Contrib Embryol Carnegie Inst 22: 1-46.
27. Thorne CH. 1993. Craniofacial clefts. Clin Plast Surg 20:803-814.
28. Torpin R. 1965. Amniochorionic mesoblastic fibrous strings and amniotic bands. Am J Obstet Gynecol 91:65-75.