Adams-Oliver syndrome

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DiseasesDB = 32741
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OMIM = 100300
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Adams-Oliver syndrome is a rare congenital disorder resulting in defects of the scalp and cranium, associated with limb malformationscite journal |author=McGoey RR, Lacassie Y |title=Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant |journal=Am J Med Genet. A |volume=146 |issue=4 |pages=488-491 |year=2008 |month=February |pmid=18203152 |doi=10.1002/ajmg.a.32163] and occasional mental retardation.

It was first characterized in 1945. [cite journal | author=Adams FM, Oliver CP | title=Hereditary deformities in man due to arrested development | journal=J Hered. | year=1945 | pages=3-7 | volume=36]

Pathogenesis

An exact genetic mutation associated with the disorder is still unknown,cite journal |author=Whitley CB, Gorlin RJ |title=Adams-Oliver syndrome revisited |journal=Am J Med Genet. |volume=40 |issue=3 |pages=319-326 |year=1991 |month=September |pmid=1951437 |doi=10.1002/ajmg.1320400315 |url=] as many candidate genes have been tested and rejected.cite journal |author=Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W |title=Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes |journal=Clin Genet. |volume=69 |issue=1 |pages=86-92 |year=2006 |month=January |pmid=16451141 |doi=10.1111/j.1399-0004.2006.00552.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2006&volume=69&issue=1&spage=86]

Both autosomal dominantcite journal |pmid=474617 |year=1979 |month= |author=Bonafede RP, Beighton P |title=Autosomal dominant inheritance of scalp defects with ectrodactyly |volume=3 |issue=1 |pages=35-41 |doi=10.1002/ajmg.1320030109 |journal=American journal of medical genetics ] and autosomal recessive inheritance have been observed with this disorder.

References