Adams-Oliver Syndrome

Living reference work entry

Abstract

In 1945, Adams and Oliver described congenital transverse limb defects associated with aplasia cutis congenita in a three-generation kindred with typical autosomal dominant inheritance and intrafamilial variable expressivity.

Keywords

Migration Meningitis Glaucoma Dura Thalidomide 

References

  1. Adams, F. H., & Oliver, C. P. (1945). Hereditary deformities in man due to arrested development. Journal of Heredity, 36, 3–7.Google Scholar
  2. Amitai, D. B., Fichman, S., Merlob, P., et al. (2000). Cutis marmorata telangiectatica congenita: Clinical findings in 85 patients. Pediatric Dermatology, 17, 100–104.PubMedCrossRefGoogle Scholar
  3. Arand, A. G., Ball, W. S., & Crone, K. R. (1991). Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literature. Pediatric Neurosurgery, 17, 203–207.Google Scholar
  4. Bajpai, M., & Pal, K. (2003). Aplasia cutis cerebri with partial acrania-Total reconstruction in a severe case and review of the literature. Journal of Pediatric Surgery, 38, e4.PubMedCrossRefGoogle Scholar
  5. Bamforth, J. S., Kaurah, P., Byrne, J., et al. (1994). Adams Oliver syndrome: A family with extreme variability in clinical expression. American Journal of Medical Genetics, 49, 393–396.PubMedCrossRefGoogle Scholar
  6. Baskar, S., Kulkarni, M. L., Kulkarni, A. M., et al. (2009). Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway. American Journal of Medical Genetics Part A, 149A, 1678–1684.PubMedCrossRefGoogle Scholar
  7. Becker, R., Kunze, J., Horn, D., et al. (2002). Autosomal recessive type of Adams-Oliver syndrome: Prenatal diagnosis. Ultrasound in Obstetrics & Gynecology, 20, 506–510.CrossRefGoogle Scholar
  8. Benafede, R. P., & Beighton, P. (1979). Autosomal dominant inheritance of scalp defects with ectrodactyly. American Journal of Medical Genetics, 3, 35–41.CrossRefGoogle Scholar
  9. Bonafede, R. P., & Beighton, P. (1979). Autosomal dominant inheritance of scalp defects with ectrodactyly. American Journal of Medical Genetics, 3, 35–41.PubMedCrossRefGoogle Scholar
  10. Bork, K., & Pfeifle, J. (1992). Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. British Journal of Dermatology, 127, 160–163.PubMedCrossRefGoogle Scholar
  11. Burton, B. K., Hauser, H., & Nadler, H. L. (1976). Congenital scalp defects with distal limb anomalies: Report of a family. Journal of Medical Genetics, 13, 466–468.PubMedPubMedCentralCrossRefGoogle Scholar
  12. Cohen, I., Silberstein, E., Perez, Y., et al. (2014). Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. European Journal of Human Genetics, 22, 374–378.PubMedPubMedCentralCrossRefGoogle Scholar
  13. Frieden, I. (1986). Aplasia cutis congenita: A clinical review and proposal for classification. Journal of the American Academy of Dermatology, 14, 646–660.PubMedCrossRefGoogle Scholar
  14. Fryns, J. P. (1987). Congenital scalp defects with distal limb reduction anomalies. Journal of Medical Genetics, 24, 493–496.PubMedPubMedCentralCrossRefGoogle Scholar
  15. Fryns, J. P., Leigius, E., Demaere, P., et al. (1996). Congenital scalp defects, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arterial cerebri media. Clinical Genetics, 50, 505–509.PubMedCrossRefGoogle Scholar
  16. Hassed, S. J., Wiley, G. B., Wang, S., et al. (2012). RBPJ mutations identified in two families affected by Adams-Oliver syndrome. American Journal of Human Genetics, 91, 391–395.PubMedPubMedCentralCrossRefGoogle Scholar
  17. Holmes, L. B. (2002). Teratogen-induced limb defects. American Journal of Medical Genetics, 112, 297–303.PubMedCrossRefGoogle Scholar
  18. Hoyme, H. E., Der Kaloustian, V. M., Entin, M., et al. (1992). Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: An additional clinical observation. American Journal of Medical Genetics, 42, 398–399.PubMedCrossRefGoogle Scholar
  19. Islie, M., Wuyts, W., van Esch, H., et al. (2014). Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams–Oliver syndrome and ARHGAP31 mutations. American Journal of Medical Genetics Part A, 164A, 1576–1579.Google Scholar
  20. Klinger, G., & Merlob, P. (1998). Adams-Oliver syndrome: Autosomal recessive inheritance and new phenotypic-anthropometric findings. American Journal of Medical Genetics, 79, 197–199.PubMedCrossRefGoogle Scholar
  21. Koiffmann, C. P., Wajntal, A., Huyke, B. J., et al. (1988). Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome- McKusick 10030): Further suggestion of autosomal recessive inheritance. American Journal of Medical Genetics, 29, 263–268.PubMedCrossRefGoogle Scholar
  22. Küster, W., Lenz, W., Kaariainen, H., et al. (1988). Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): Report of ten cases and review of the literature. American Journal of Medical Genetics, 31, 99–115.PubMedCrossRefGoogle Scholar
  23. Lin, A. E., Wesgate, M. N., van der Velde, M. E., et al. (1998). Adams-Oliver syndrome associated with cardiovascular malformation. Clinical Dysmorphology, 7, 235–241.PubMedCrossRefGoogle Scholar
  24. Maniscalco, M., Zedda, A., Faraone, S., et al. (2005). Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: A further support to the vascular hypothesis. American Journal of Medical Genetics Part A, 136A, 269–274.CrossRefGoogle Scholar
  25. McGuirk, C. K., Westgate, M. N., & Holmes, L. B. (2001). Limb deficiencies in newborn infants. Pediatrics, 108, E64.PubMedCrossRefGoogle Scholar
  26. Mempel, M., Abeck, D., Lange, I., et al. (1999). The wide spectrum of clinical expression in Adams-Oliver syndrome: A report of two cases. British Journal of Dermatology, 140, 1157–1160.PubMedCrossRefGoogle Scholar
  27. Pereira-da-Silva, L., Leal, F., Cassiano Santos, G., et al. (2000). Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: Report of two further cases. American Journal of Medical Genetics, 94, 75–76.PubMedCrossRefGoogle Scholar
  28. Scribanu, N., & Temtamy, S. A. (1975). The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs. Journal of Pediatrics, 87, 79–82.PubMedCrossRefGoogle Scholar
  29. Shaheen, R., Faqeih, E., Sunker, A., et al. (2011). Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. American Journal of Human Genetics, 89, 328–333.PubMedPubMedCentralCrossRefGoogle Scholar
  30. Shaheen, R., Aglan, M., Keppler-Noreuil, K., et al. (2013). Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. American Journal of Human Genetics, 92, 598–604.PubMedPubMedCentralCrossRefGoogle Scholar
  31. Smithells, R. W., & Newman, C. G. (1992). Recognition of thalidomide defects. Journal of Medical Genetics, 29, 716–723.PubMedPubMedCentralCrossRefGoogle Scholar
  32. Snape, K. M. G., Ruddy, D., Zenker, M., et al. (2009). The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. American Journal of Medical Genetics Part A, 149A, 1860–1881.PubMedCrossRefGoogle Scholar
  33. Southgate, L., Machado, R. D., Snape, K. M., et al. (2011). Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. American Journal of Human Genetics, 88, 574–585.PubMedPubMedCentralCrossRefGoogle Scholar
  34. Spranger, J. W., Schinzel, A., Myers, T., et al. (1980). Cerebroarthrodigital syndrome: A newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia. American Journal of Medical Genetics, 5, 13–24.PubMedCrossRefGoogle Scholar
  35. Stittrich, A.-B., Lehman, A., Bodian, D. L., et al. (2014). Mutations in NOTCH1 cause Adams-Oliver syndrome. American Journal of Human Genetics, 95, 275–284.PubMedPubMedCentralCrossRefGoogle Scholar
  36. Sybert, V. P. (1989). Congenital scalp defects with distal limb anomalies (Adams-Oliver Syndrome- McKusick 10030): Further suggestion of autosomal recessive inheritance. American Journal of Medical Genetics, 32, 266–267.PubMedCrossRefGoogle Scholar
  37. Tekin, M., Bodurtha, J., Çiftçi, E., et al. (1999). Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome. American Journal of Medical Genetics, 86, 90–91.PubMedCrossRefGoogle Scholar
  38. Temtamy, S. A., Aglan, M. S., Ashour, A. M., et al. (2007). Adams-Oliver syndrome: Further evidence of an autosomal recessive variant. Clinical Dysmorphology, 16, 141–149.PubMedCrossRefGoogle Scholar
  39. Toriello, H. V., Graff, R. G., Florentine, M. F., et al. (1988). Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? American Journal of Medical Genetics, 29, 269–276.PubMedCrossRefGoogle Scholar
  40. Verdyck, P., Holder-Espinasse, M., Hul, W. V., et al. (2003). Clinical and molecular analysis of nine families with Adams-Oliver syndrome. European Journal of Human Genetics, 11, 457–463.PubMedCrossRefGoogle Scholar
  41. Whitley, C. B., & Gorlin, R. J. (1991). Adams-Oliver syndrome revisited. American Journal of Medical Genetics, 40, 319–326.PubMedCrossRefGoogle Scholar
  42. Zapata, H. H., Sletten, L. J., & Pierpont, M. E. M. (1995). Congenital cardiac malformations in Adams-Oliver syndrome. Clinical Genetics, 47, 80–84.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical GeneticsDepartment of Pediatrics, LSU Health Sciences CenterShreveportUSA

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