Adams-Oliver syndrome is a very rare syndrome, first described in 1945 by Forrest H. Adams and CP Oliver . The main manifestatins of the syndrome are aplasia cutis congenita (congenital defect of the skin, especially in the hairy part of the head) and transverse defects of the limbs (especially the lower). There are also defects of other organs such as congenital heart defects, microphtalmos, cryptorchidism.
The syndrome is genetically heterogenous, inheritance is most often autosomal dominant, amd sporadically appearing cases of autosomal recessive cases are describe. In 2011, a possible association of this syndrome with the mutations gene ARHGAP31 (3q13.3) .
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References[edit | edit source]
- ENERSEN, Ole Daniel. Adams-Oliver syndrome (WhoNamedIt) [online]. [cit. 2011-10-22]. <http://www.whonamedit.com/synd.cfm/717.html>.
- SOUTHGATE, Laura – MACHADO, Katie M – SNAPE,. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet [online]. 2011, y. 5, p. 574-85, Available from <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146732/?tool=pubmed>. ISSN 0002-9297 (print), 1537-6605.
Source[edit | edit source]
- ŠÍPEK, Antonín. Genetika - Biologie [online]. ©2010-2011. [cit. 22.10.2011]. <http://www.genetika-biologie.cz/>.