Living reference work entry
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.
KeywordsDouble Outlet Right Ventricle Skull Defect Limb Defect Amniotic Band Poland Syndrome
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
- Adams, F. H., & Oliver, C. P. (1945). Hereditary deformities in man due to arrested development. Journal of Heredity, 36, 3–7.Google Scholar
- 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
- 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
- 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
- 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
© Springer Science+Business Media New York 2015