Unreported Manifestations in Two Dutch Families with Bartsocas-Papas Syndrome

American Journal of Medical Genetics

Volumn 123 A, Issue 3, 2003, Pages 243-248

  Veenstra Knol, Hermine E ^a   Kleibeuker, Arianne ^a   Timmer, Albertus ^a   Ten Kate, Leo P ^b   Van Essen, Anthonie J ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Absent urethra; Apoptosis; Atretic mouth; Bartsocas Papas syndrome; Lethal pterygium syndrome; Omphalocele; Prenatal diagnosis

Indexed keywords

ANUS ATRESIA; APLASIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARTSOCAS PAPAS SYNDROME; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CLUBFOOT; COLOBOMA; CONTROLLED STUDY; DENMARK; DISEASE ACTIVITY; DISEASE COURSE; DISEASE SEVERITY; FAMILY; FEMALE; FETUS; FLEXION CONTRACTURE; GENETIC COUNSELING; GROWTH RETARDATION; HUMAN; HYPOPLASIA; INTESTINE MALROTATION; MALE; MANDIBLE HYPOPLASIA; MICROSTOMIA; MULTIPLE MALFORMATION SYNDROME; NAIL DISEASE; NEWBORN; OMPHALOCELE; PATHOGENESIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYNDACTYLY; SYNDROME; ULTRASOUND; URETHRA;

EID: 0345327701     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20308     Document Type: Article

References (22)

1. Aslan Y, Erduran E, Kutlu N. 2000. Autosomal recessive multiple pterygium syndrome: A new variant? Am J Med Genet 93:194-197.
2. Bartsocas CS, Papas CV. 1972. Popliteal pterygium syndrome. J Med Genet 9:222-226.
3. Brunner HG, Hamel BCJ, van Bokhoven H. 2002. Thep63 gene in EEC and other syndromes. J Med Genet 39:377-381.
4. Celli J, Duijf P, Hamel BCJ, Bamshad M, Kramer B, Smits APT, Newbury-Ecob R, Hennekam RCM, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. 1999. Heterozygous germline mutations in the p53 homologue p63 are the cause of EEC syndrome. Cell 99:143-153.
5. Cheirif S, Grayson BH, Maccaro HA. 1985. Bartsocas-Papas syndrome. A case report. NYS Dent J 51(2):101-102.
6. Di Stefano G, Romeo MG. 1974. La sindrome dello pterigio popliteo (contributo statistico). Riv Pediatr Sic 29:54-75.
7. Gianotti A, Digilio MC, Standoli L, Zama M, Dallapiccola B. 1992. New case of Bartsocas-Papas syndrome surviving at 20 months. Am J Med Genet 42:733-735.
8. Hall JG, Reed SD, Rosenbaum KH, Gershanik J, Chen H, Wilson KM. 1982. Limb pterygium syndromes: A review and report of eleven patients. Am J Med Genet 12:377-409.
9. Hennekam RCM, Huber J, Variend D. 1994. Bartsocas-Papas syndrome with internal anomalies: Evidence for a more generalized epithelial defect or new syndrome? Am J Med Genet 53:102-107.
10. Levrero M, De Laurenzi V, Costanzo A, Gong J, Wang JY, Melino G. 2000. The p53/p63/p73 family of transcription factors: Overlapping and distinct functions. J Cell Sci 113:1661-1670.
11. Martínez-Frías ML, Frías JL, Vázquez I, Fernández J. 1991. Bartsocas-Papas syndrome: Three familial cases from Spain. Am J Med Genet 39:34-37.
12. Massoud AA, Ammaari AN, Khan AS, Ven Katraman B, Teebi AS. 1998. Bartsocas-Papas syndrome in an Arab family with four affected sibs: Further characterization. Am J Med Genet 79:16-21.
13. Mavili ME, Karamursel S, Vargel I, Erk Y. 1999. Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae. Ann Plast Surg 43:443-445.
14. McGrath JA, Duijf PH, Doetsch VV, Irvine AD, Waal RdR, Vanmolkot KR, Wessagowit VV, 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.
15. Opitz JM. 1988. Pathogenic analysis of certain developmental and genetic ectodermal defects. In: Salinas CF, Opitz JM, Paul MW, editors. Recent advances in ectodermal dysplasias. New York: Alan R. Liss, Inc., for the National Foundation-March of Dimes. BD:OAS 24(2):75-102pp.
16. Papadia F, Long N. 1988. Nosological difference between the Bartsocas-Papas syndrome and lethal multiple pterygium syndrome. Am J Med Genet 29:699-700.
17. Papadia F, Zimbalatti F, Gentile La Rosa C. 1984. The Bartsocas-Papas syndrome: Autosomal recessive form of popliteal pterygium syndrome in a male infant. Am J Med Genet 17:841-847.
18. Reich E, Wishnick M, McCarthy J, Tzimas N. 1984. Long term follow-up in an 8-year-old with the "lethal" popliteal pterygium syndrome (Bartsocas-Papas syndrome). Am J Hum Genet 36(Suppl):70s.
19. Shafeghati Y, Karimi-Nejad A, Karimi-Nejad R. 1999. Supernumerary nipples in a Bartsocas-Papas patient in a consanguineous Iranian family. Clin Dysmorphol 8:155-156.
20. Teebi AS. 2001. Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. Am J Med Genet 101:78.
21. Yang A, Kaghad M, Wang Y, Gillett E, Fleming MD, Dotsch V, Andrews NC, Caput D, McKeon F. 1998. P63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell 2:305-316.
22. Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, Tabin C, Sharpe A, Caput D, Crum C, McKeon F. 1999. P63 is essential for regenerative proliferation in limb, craniofacial, and epithelial development. Nature 398:714-718.