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.
Similar content being viewed by others
References
Adams, F. H., & Oliver, C. P. (1945). Hereditary deformities in man due to arrested development. Journal of Heredity, 36, 3–7.
Amitai, D. B., Fichman, S., Merlob, P., et al. (2000). Cutis marmorata telangiectatica congenita: Clinical findings in 85 patients. Pediatric Dermatology, 17, 100–104.
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.
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.
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.
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.
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.
Benafede, R. P., & Beighton, P. (1979). Autosomal dominant inheritance of scalp defects with ectrodactyly. American Journal of Medical Genetics, 3, 35–41.
Bonafede, R. P., & Beighton, P. (1979). Autosomal dominant inheritance of scalp defects with ectrodactyly. American Journal of Medical Genetics, 3, 35–41.
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.
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.
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.
Frieden, I. (1986). Aplasia cutis congenita: A clinical review and proposal for classification. Journal of the American Academy of Dermatology, 14, 646–660.
Fryns, J. P. (1987). Congenital scalp defects with distal limb reduction anomalies. Journal of Medical Genetics, 24, 493–496.
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.
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.
Holmes, L. B. (2002). Teratogen-induced limb defects. American Journal of Medical Genetics, 112, 297–303.
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.
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.
Klinger, G., & Merlob, P. (1998). Adams-Oliver syndrome: Autosomal recessive inheritance and new phenotypic-anthropometric findings. American Journal of Medical Genetics, 79, 197–199.
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.
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.
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.
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.
McGuirk, C. K., Westgate, M. N., & Holmes, L. B. (2001). Limb deficiencies in newborn infants. Pediatrics, 108, E64.
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.
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.
Scribanu, N., & Temtamy, S. A. (1975). The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs. Journal of Pediatrics, 87, 79–82.
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.
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.
Smithells, R. W., & Newman, C. G. (1992). Recognition of thalidomide defects. Journal of Medical Genetics, 29, 716–723.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Whitley, C. B., & Gorlin, R. J. (1991). Adams-Oliver syndrome revisited. American Journal of Medical Genetics, 40, 319–326.
Zapata, H. H., Sletten, L. J., & Pierpont, M. E. M. (1995). Congenital cardiac malformations in Adams-Oliver syndrome. Clinical Genetics, 47, 80–84.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer Science+Business Media LLC
About this entry
Cite this entry
Chen, H. (2017). Adams-Oliver Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_4
Download citation
DOI: https://doi.org/10.1007/978-1-4939-2401-1_4
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4939-2400-4
Online ISBN: 978-1-4939-2401-1
eBook Packages: MedicineReference Module Medicine