Placenta
Volume 30, Issue 3 , Pages 207-215 , March 2009

Connective Tissue and Related Disorders and Preterm Birth: Clues to Genes Contributing to Prematurity

  • E.A. Anum

      Affiliations

    • Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA
  • ,
  • L.D. Hill

      Affiliations

    • Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA
  • ,
  • A. Pandya

      Affiliations

    • Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA
  • ,
  • J.F. Strauss III

      Affiliations

    • Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA
    • Corresponding Author InformationCorrespondence to: Jerome F. Strauss III, M.D., Ph.D., MCV Campus, Sanger Hall, 1st Floor, Room 1-071, 1101 East Marshall Street, PO Box 980565, Richmond, VA 23298, USA. Tel.: +1 804 828 9788; fax: +1 804 828 7628.

,Accepted 16 December 2008.

References 

  1. Parry S, Strauss JF. Premature rupture of the fetal membranes. N Engl J Med. 1998;338:663–670
  2. Oxlund H, Helmig R, Halaburt JT, Uldbjerg N. Biomechanical analysis of human chorioamniotic membranes. Eur J Obstet Gynecol Reprod Biol. 1990;34:247–255
  3. Helmig R, Oxlund H, Petersen LK, Uldbjerg N. Different biomechanical properties of human fetal membranes obtained before and after delivery. Eur J Obstet Gynecol Reprod Biol. 1993;48:183–189
  4. Wang H, Parry S, Macones G, Sammel MD, Kuivaniemi H, Tromp G, et al. A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans. Proc Natl Acad Sci U S A. 2006;103:13463–13467
  5. Moore RM, Mansour JM, Redline RW, Mercer BM, Moore JJ. The physiology of fetal membrane rupture: insight gained from the determination of physical properties. Placenta. 2006;27:1037–1051
  6. Malak TM, Ockleford CD, Bell SC, Dalgleish R, Bright N, Macvicar J. Confocal immunofluorescence localization of collagen types I, III, IV, V and VI and their ultrastructural organization in term human fetal membranes. Placenta. 1993;14:385–406
  7. Hieber AD, Corcino D, Motosue J, Sandberg LB, Roos PJ, Yu SY, et al. Detection of elastin in the human fetal membranes: proposed molecular basis for elasticity. Placenta. 1997;18:301–312
  8. Malak TM, Bell SC. Distribution of fibrillin-containing microfibrils and elastin in human fetal membranes: a novel molecular basis for membrane elasticity. Am J Obstet Gynecol. 1994;171:195–205
  9. Heaps BR, House M, Socrate S, Leppert P, Strauss JF. Matrix biology and preterm birth. In:  Petraglia F,  Strauss JF,  Gabbe SG,  Weiss G editor. Preterm birth. Oxford, England: Informa Press; 2007;p. 70–93
  10. Barabas AP. Ehlers–Danlos syndrome: associated with prematurity and premature rupture of foetal membranes; possible increase in incidence. Br Med J. 1966;2:682–684
  11. Lind J, Wallenburg HC. Pregnancy and the Ehlers–Danlos syndrome: a retrospective study in a Dutch population. Acta Obstet Gynecol Scand. 2002;81:293–300
  12. Witt DR, Hayden MR, Holbrook KA, Dale BA, Baldwin VJ, Taylor GP. Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia. Am J Med Genet. 1986;24:631–648
  13. Mau U, Kendziorra H, Kaiser P, Enders H. Restrictive dermopathy: report and review. Am J Med Genet. 1997;71:179–185
  14. Wesche WA, Cutlan RT, Khare V, Chesney T, Shanklin D. Restrictive dermopathy: report of a case and review of the literature. J Cutan Pathol. 2001;28:211–218
  15. Dolan CR, Smith LT, Sybert VP. Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein. Am J Med Genet. 1993;47:395–400
  16. Shaw DW, Fine JD, Piacquadio DJ, Greenberg MJ, Wang-Rodriguez J, Eichenfield LF. Gastric outlet obstruction and epidermolysis bullosa. J Am Acad Dermatol. 1997;36:304–310
  17. De Jenlis Sicot B, Deruelle P, Kacet N, Vaillant C, Subtil D. Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk. Ultrasound Obstet Gynecol. 2005;25:607–609
  18. Lind J, Wallenburg HC. The Marfan syndrome and pregnancy: a retrospective study in a Dutch population. Eur J Obstet Gynecol Reprod Biol. 2001;98:28–35
  19. Rossiter JP, Repke JT, Morales AJ, Murphy EA, Pyeritz RE. A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. Am J Obstet Gynecol. 1995;173:1599–1606
  20. Badauy CM, Gomes SS, Sant'Ana Filho M, Chies JA. Ehlers–Danlos syndrome (EDS) type IV: review of the literature. Clin Oral Investig. 2007;11:183–187
  21. Parapia LA, Jackson C. Ehlers–Danlos syndrome – a historical review. Br J Haematol. 2008;141:32–35
  22. Karrer S, Landthaler M, Schmalz G. Ehlers–Danlos type VIII. Review of the literature. Clin Oral Investig. 2000;4:66–69
  23. De Coster PJ, Cornelissen M, De Paepe A, Martens LC, Vral A. Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders. Arch Oral Biol. 2007;52:101–109
  24. Pyeritz RE. Ehlers–Danlos syndrome. N Engl J Med. 2000;342:730–732
  25. Germain DP. Ehlers–Danlos syndrome type IV. Orphanet J Rare Dis. 2007;2:32
  26. Ainsworth SR, Aulicino PL. A survey of patients with Ehlers–Danlos syndrome. Clin Orthop Relat Res. 1993;286:250–256
  27. Sorokin Y, Johnson MP, Rogowski N, Richardson DA, Evans MI. Obstetric and gynecologic dysfunction in the Ehlers–Danlos syndrome. J Reprod Med. 1994;39:281–284
  28. Yen JL, Lin SP, Chen MR, Niu DM. Clinical features of Ehlers–Danlos syndrome. J Formos Med Assoc. 2006;105:475–480
  29. Volkov N, Nisenblat V, Ohel G, Gonen R. Ehlers–Danlos syndrome: insights on obstetric aspects. Obstet Gynecol Surv. 2007;62:51–57
  30. Snyder RR, Gilstrap LC, Hauth JC. Ehlers–Danlos syndrome and pregnancy. Obstet Gynecol. 1983;61:649–650
  31. Ploeckinger B, Ulm MR, Chalubinski K. Ehlers–Danlos syndrome type II in pregnancy. Am J Perinatol. 1997;14:99–101
  32. Munz W, Schlembach D, Beinder E, Fischer T. Ehlers–Danlos syndrome type I in pregnancy: a case report. Eur J Obstet Gynecol Reprod Biol. 2001;99:126–128
  33. Roop KA, Brost BC. Abnormal presentation in labor and fetal growth of affected infants with type III Ehlers–Danlos syndrome. Am J Obstet Gynecol. 1999;181:752–753
  34. Morales-Rosello J, Hernandez-Yago J, Pope M. Type III Ehlers–Danlos syndrome and pregnancy. Arch Gynecol Obstet. 1997;261:39–43
  35. Jaleel S, Olah K. Ehlers–Danlos syndrome in pregnancy. J Obstet Gynaecol. 2007;27:420–421
  36. Golfier F, Peyrol S, Attia-Sobol J, Marret H, Raudrant D, Plauchu H. Hypermobility type of Ehlers–Danlos syndrome: influence of pregnancies. Clin Genet. 2001;60:240–241
  37. Bruno PA, Napolitano V, Votino F, Di Mauro P, Nappi C. Pregnancy and delivery in Ehlers–Danlos syndrome type V. Clin Exp Obstet Gynecol. 1997;24:152–153
  38. Kiilholma P, Gronroos M, Nanto V, Paul R. Pregnancy and delivery in Ehlers–Danlos syndrome. Role of copper and zinc. Acta Obstet Gynecol Scand. 1984;63:437–439
  39. Smith SA, Powell LC, Essin EM. Ehlers–Danlos syndrome and pregnancy. Report of a case. Obstet Gynecol. 1968;32:331–335
  40. Kulkarni S, LaGrenade L. Ehlers–Danlos syndrome in pregnancy. West Indian Med J. 1992;41:86–87
  41. De Vos M, Nuytinck L, Verellen C, De Paepe A. Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers–Danlos syndrome. A case report. Fetal Diagn Ther. 1999;14:244–247
  42. Fujimoto A, Wilcox WR, Cohn DH. Clinical, morphological, and biochemical phenotype of a new case of Ehlers–Danlos syndrome type VIIC. Am J Med Genet. 1997;68:25–28
  43. Lurie S, Manor M, Hagay ZJ. The threat of type IV Ehlers–Danlos syndrome on maternal well-being during pregnancy: early delivery may make the difference. J Obstet Gynaecol. 1998;18:245–248
  44. Young ID, Lindenbaum RH, Thompson EM, Pembrey ME. Amniotic bands in connective tissue disorders. Arch Dis Child. 1985;60:1061–1063
  45. Taylor DJ, Wilcox I, Russell JK. Ehlers–Danlos syndrome during pregnancy: a case report and review of the literature. Obstet Gynecol Surv. 1981;36:277–281
  46. Atalla A, Page I. Ehlers–Danlos syndrome type III in pregnancy. Obstet Gynecol. 1988;71:508–509
  47. Wood J. Care study Pregnancy and Ehlers–Danlos syndrome type IV. Midwives Chron. 1993;106:446–448
  48. Hermanns-Le T, Pierard G, Quatresooz P. Ehlers–Danlos-like dermal abnormalities in women with recurrent preterm premature rupture of fetal membranes. Am J Dermatopathol. 2005;27:407–410
  49. Malfait F, De Paepe A. Molecular genetics in classic Ehlers–Danlos syndrome. Am J Med Genet C Semin Med Genet. 2005;139C:17–23
  50. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342:673–680
  51. Brusin JH. Osteogenesis imperfecta. Radiol Technol. 2008;79:535–548quiz 549–51
  52. Glorieux FH. Osteogenesis imperfecta. Best Pract Res Clin Rheumatol. 2008;22:85–100
  53. Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, et al. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat. 2008;
  54. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, et al. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006;127:291–304
  55. Martin E, Shapiro JR. Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5:91–97
  56. Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 2006;355:2757–2764
  57. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101–116
  58. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363:1377–1385
  59. Cheung MS, Glorieux FH. Osteogenesis imperfecta: update on presentation and management. Rev Endocr Metab Disord. 2008;9:153–160
  60. Taksande A, Vilhekar K, Khangare S. Osteogenesis imperfecta type II with congenital heart disease. Iran J Pediatr. 2008;18(2):175–178
  61. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28:209–221
  62. Key TC, Horger EO. Osteogenesis imperfecta as a complication of pregnancy. Obstet Gynecol. 1978;51:67–71
  63. Byrne BM, Morrison JJ. Prenatal diagnosis of lethal fetal malformation in Irish obstetric practice. Ir Med J. 1999;92:271–273
  64. Teng SW, Guo WY, Sheu MH, Wang PH. Initial experience using magnetic resonance imaging in prenatal diagnosis of osteogenesis imperfecta type II: a case report. Clin Imaging. 2003;27:55–58
  65. Cho E, Dayan SS, Marx GF. Anaesthesia in a parturient with osteogenesis imperfecta. Br J Anaesth. 1992;68:422–423
  66. Brady AF, Patton MA. Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome) – evidence for possible autosomal recessive inheritance. Clin Dysmorphol. 1997;6:329–336
  67. Chen CP, Su YN, Lin SP, Lin ML, Wang W. Favourable outcome in a pregnancy with concomitant maternal and fetal osteogenesis imperfecta associated with a novel COL1A2 mutation. Prenat Diagn. 2006;26:188–190
  68. Parasuraman R, Taylor MJ, Liversedge H, Gilg J. Pregnancy management in type III maternal osteogenesis imperfecta. J Obstet Gynaecol. 2007;27:619–621
  69. Anderer G, Hellmeyer L, Hadji P. Clinical management of a pregnant patient with type I osteogenesis imperfecta using quantitative ultrasonometry – a case report. Ultraschall Med. 2008;29:201–204
  70. Chan B, Zacharin M. Maternal and infant outcome after pamidronate treatment of polyostotic fibrous dysplasia and osteogenesis imperfecta before conception: a report of four cases. J Clin Endocrinol Metab. 2006;91:2017–2020
  71. Datta V, Sinha A, Saili A, Nangia S. Bruck syndrome. Indian J Pediatr. 2005;72:441–442
  72. Cole WG, Patterson E, Bonadio J, Campbell PE, Fortune DW. The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen. J Med Genet. 1992;29:112–118
  73. Rodriguez JI, Perera A, Regadera J, Collado F, Contreras F. Lethal osteogenesis imperfecta. Anatomopathologic (optical and structural) study of 8 autopsy cases. An Esp Pediatr. 1982;17:18–33
  74. Fine JD. Epidermolysis bullosa: a genetic disease of altered cell adhesion and wound healing, and the possible clinical utility of topically applied thymosin beta4. Ann N Y Acad Sci. 2007;1112:396–406
  75. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol. 2008;58:931–950
  76. Uitto J. Epidermolysis bullosa: prospects for cell-based therapies. J Invest Dermatol. 2008;128:2140–2142
  77. Buscher U, Wessel J, Anton-Lamprecht I, Dudenhausen JW. Pregnancy and delivery in a patient with mutilating dystrophic epidermolysis bullosa (Hallopeau–Siemens type). Obstet Gynecol. 1997;89:817–820
  78. Price T, Katz VL. Obstetrical concerns of epidermolysis bullosa. Obstet Gynecol Surv. 1988;43:445–449
  79. Baloch MS, Fitzwilliams B, Mellerio J, Lakasing L, Bewley S, O'Sullivan G. Anaesthetic management of two different modes of delivery in patients with dystrophic epidermolysis bullosa. Int J Obstet Anesth. 2008;17:153–158
  80. Broster T, Placek R, Eggers GW. Epidermolysis bullosa: anesthetic management for cesarean section. Anesth Analg. 1987;66:341–343
  81. Fine JD, Eady RA, Levy ML, Hejtmancik JF, Courtney KB, Carpenter RJ, et al. Prenatal diagnosis of dominant and recessive dystrophic epidermolysis bullosa: application and limitations in the use of KF-1 and LH 7:2 monoclonal antibodies and immunofluorescence mapping technique. J Invest Dermatol. 1988;91:465–471
  82. Berryhill RE, Benumof JL, Saidman LJ, Smith PC, Plumer MH. Anesthetic management of emergency cesarean section in a patient with epidermolysis bullosa dystrophica polydysplastica. Anesth Analg. 1978;57:281–283
  83. Bianca S, Reale A, Ettore G. Pregnancy and cesarean delivery in a patient with dystrophic epidermolysis bullosa. Eur J Obstet Gynecol Reprod Biol. 2003;110:235–236
  84. Goldstein AM, Davenport T, Sheridan RL. Junctional epidermolysis bullosa: diagnosis and management of a patient with the Herlitz variant. J Pediatr Surg. 1998;33:756–758
  85. Takizawa Y, Pulkkinen L, Shimizu H, Lin L, Hagiwara S, Nishikawa T, et al. Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. J Invest Dermatol. 1998;110:828–831
  86. Azarian M, Dreux S, Vuillard E, Meneguzzi G, Haber S, Guimiot F, et al. Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review. Prenat Diagn. 2006;26:57–59
  87. Nazzaro V, Nicolini U, De Luca L, Berti E, Caputo R. Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. J Med Genet. 1990;27:244–248
  88. Marras A, Dessi C, Macciotta A. Epidermolysis bullosa and amniotic bands. Am J Med Genet. 1984;19:815–817
  89. Aubard Y, Genet C, Bedane C, Gilbert B. Prenatal diagnosis of hereditary bullous epidermolysis. A case report. J Gynecol Obstet Biol Reprod (Paris). 1996;25:588–593
  90. Puvabanditsin S, Garrow E, Kim DU, Tirakitsoontorn P, Luan J. Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. J Am Acad Dermatol. 2001;44:330–335
  91. Peltier FA, Tschen EH, Raimer SS, Kuo TT. Epidermolysis bullosa letalis associated with congenital pyloric atresia. Arch Dermatol. 1981;117:728–731
  92. Fox AT, Alderdice F, Atherton DJ. Are children with recessive dystrophic epidermolysis bullosa of low birthweight?. Pediatr Dermatol. 2003;20:303–306
  93. Nijsten TE, De Moor A, Colpaert CG, Robert K, Mahieu LM, Lambert J. Restrictive dermopathy: a case report and a critical review of all hypotheses of its origin. Pediatr Dermatol. 2002;19:67–72
  94. van der Stege JG, van Straaten HL, van der Wal AC, van Eyck J. Restrictive dermopathy and associated prenatal ultrasound findings: case report. Ultrasound Obstet Gynecol. 1997;10:140–141
  95. Sander CS, Salman N, van Geel M, Broers JL, Al-Rahmani A, Chedid F, et al. A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East. Br J Dermatol. 2008;159:961–967
  96. Thill M, Nguyen TD, Wehnert M, Fischer D, Hausser I, Braun S, et al. Restrictive dermopathy: a rare laminopathy. Arch Gynecol Obstet. 2008;278:201–208
  97. Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF, et al. Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. Arch Dermatol. 1998;134:577–579
  98. Kim YN, Jeong DH, Jeong SJ, Sung MS, Kang MS, Kim KT. Complete chorioamniotic membrane separation with fetal restrictive dermopathy in two consecutive pregnancies. Prenat Diagn. 2007;27:352–355
  99. Navarro CL, Cadinanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, et al. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of lamin A precursors. Hum Mol Genet. 2005;14:1503–1513
  100. Moulson CL, Go G, Gardner JM, van der Wal AC, Smitt JH, van Hagen JM, et al. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol. 2005;125:913–919
  101. Bergo MO, Gavino B, Ross J, Schmidt WK, Hong C, Kendall LV, et al. Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect. Proc Natl Acad Sci U S A. 2002;99:13049–13054
  102. Pendas AM, Zhou Z, Cadinanos J, Freije JM, Wang J, Hultenby K, et al. Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat Genet. 2002;31:94–99
  103. Pyeritz RE. The Marfan syndrome. Annu Rev Med. 2000;51:481–510
  104. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337–339
  105. Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, et al. National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation. 2008;118:785–791
  106. Lipscomb KJ, Smith JC, Clarke B, Donnai P, Harris R. Outcome of pregnancy in women with Marfan's syndrome. Br J Obstet Gynaecol. 1997;104:201–206
  107. Pyeritz RE. Maternal and fetal complications of pregnancy in the Marfan syndrome. Am J Med. 1981;71:784–790
  108. Liang ST. Marfan syndrome, recurrent preterm labour and grandmultiparity. Aust N Z J Obstet Gynaecol. 1985;25:288–289
  109. Meijboom LJ, Drenthen W, Pieper PG, Groenink M, van der Post JA, Timmermans J, et al. ZAHARA Investigators Obstetric complications in Marfan syndrome. Int J Cardiol. 2006;110:53–59
  110. Rahman J, Rahman FZ, Rahman W, al-Suleiman SA, Rahman MS. Obstetric and gynecologic complications in women with Marfan syndrome. J Reprod Med. 2003;48:723–728
  111. Beighton P. The dominant and recessive forms of cutis laxa. J Med Genet. 1972;9:216–221
  112. Byers PH, Siegel RC, Holbrook KA, Narayanan AS, Bornstein P, Hall JG. X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med. 1980;303:61–65
  113. Hamalainen ER, Jones TA, Sheer D, Taskinen K, Pihlajaniemi T, Kivirikko KI. Molecular cloning of human lysyl oxidase and assignment of the gene to chromosome 5q23.3–31.2. Genomics. 1991;11:508–516
  114. Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, et al. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet. 2002;11:2113–2118
  115. Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Yin Loke K, et al. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet. 2006;43:255–258
  116. Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, et al. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet. 2003;72:998–1004
  117. Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A. 2008;146A:977–983
  118. Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrio A, Mila M. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol. 2004;140:1135–1139
  119. Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, et al. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet. 2006;15:3379–3386
  120. Patton MA, Tolmie J, Ruthnum P, Bamforth S, Baraitser M, Pembrey M. Congenital cutis laxa with retardation of growth and development. J Med Genet. 1987;24:556–561
  121. Nanda A, Lionel J, Al-Tawari AA, Anim JT. What syndrome is this? Autosomal recessive type II cutis laxa. Pediatr Dermatol. 2004;21:167–170
  122. Marchase P, Holbrook K, Pinnell SR. A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. J Invest Dermatol. 1980;75:399–403
  123. Dogra N, Kalsotra P, Dogra D. Congenital generalized cutis laxa in two sisters. Indian J Dermatol Venereol Leprol. 2004;70:108–109
  124. Andiran N, Sarikayalar F, Saraclar M, Caglar M. Autosomal recessive form of congenital cutis laxa: more than the clinical appearance. Pediatr Dermatol. 2002;19:412–414
  125. Khakoo A, Thomas R, Trompeter R, Duffy P, Price R, Pope FM. Congenital cutis laxa and lysyl oxidase deficiency. Clin Genet. 1997;51:109–114
  126. Koklu E, Gunes T, Ozturk MA, Akcakus M, Buyukkayhan D, Kurtoglu S. Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn. Pediatr Dermatol. 2007;24:525–528
  127. Gupta N, Phadke SR. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol. 2006;23:225–230
  128. Leduc L, Wasserstrum N. Successful treatment with the Smith–Hodge pessary of cervical incompetence due to defective connective tissue in Ehlers–Danlos syndrome. Am J Perinatol. 1992;9:25–27
  129. Tzialidou I, Oehler K, Scharf A, Staboulidou I, Westhoff-Bleck M, Hillemanns P, et al. Marfan syndrome in pregnancy: presentation of four cases and discussion. Z Geburtshilfe Neonatol. 2007;211:36–41
  130. Paternoster DM, Santarossa C, Vettore N, Dalla Pria S, Grella P. Obstetric complications in Marfan's syndrome pregnancy. Minerva Ginecol. 1998;50:441–443
  131. Warren JE, Silver RM, Dalton J, Nelson LT, Branch DW, Porter TF. Collagen 1Alpha1 and transforming growth factor-beta polymorphisms in women with cervical insufficiency. Obstet Gynecol. 2007;110:619–624
  132. Fujimoto T, Parry S, Urbanek M, Sammel M, Macones G, Kuivaniemi H, et al. A single nucleotide polymorphism in the matrix metalloproteinase-1 (MMP-1) promoter influences amnion cell MMP-1 expression and risk for preterm premature rupture of the fetal membranes. J Biol Chem. 2002;277:6296–6302
  133. Ferrand PE, Parry S, Sammel M, Macones GA, Kuivaniemi H, Romero R, et al. A polymorphism in the matrix metalloproteinase-9 promoter is associated with increased risk of preterm premature rupture of membranes in African Americans. Mol Hum Reprod. 2002;8:494–501
  134. Wang H, Parry S, Macones G, Sammel MD, Ferrand PE, Kuivaniemi H, et al. Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM). Hum Mol Genet. 2004;13:2659–2669
  135. Wang H, Sammel MD, Tromp G, Gotsch F, Halder I, Shriver MD, et al. A 12-bp deletion in the 5′-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans. Hum Mutat. 2008;29:332
  136. Wang H, Ogawa M, Wood JR, Bartolomei MS, Sammel MD, Kusanovic JP, et al. Genetic and epigenetic mechanisms combine to control MMP1 expression and its association with preterm premature rupture of membranes. Hum Mol Genet. 2008;17:1087–1096
  137. Chan TF, Poon A, Basu A, Addleman NR, Chen J, Phong A, et al. Natural variation in four human collagen genes across an ethnically diverse population. Genomics. 2008;91:307–314

PII: S0143-4004(08)00437-2

doi: 10.1016/j.placenta.2008.12.007

Placenta
Volume 30, Issue 3 , Pages 207-215 , March 2009