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ALLMedicine™ Oliver Syndrome Center

Research & Reviews  48 results

Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect ...
https://doi.org/10.1080/15513815.2022.2064018
Fetal and Pediatric Pathology; Okido MM, Ragazini CS et. al.

Apr 14th, 2022 - Background. Adams-Oliver syndrome is a congenital disease whose main findings are aplasia cutis congenita of the scalp and terminal transverse limb defects. The pathogenesis is unknown, but it is postulated that ischemic events in susceptible tiss...

Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neo...
https://doi.org/10.1111/pde.14934
Pediatric Dermatology; Tripodi GD, Dickerman DI et. al.

Feb 20th, 2022 - Aplasia cutis congenita (ACC) was diagnosed in a newborn with dysmorphic facial features, oligodactyly of the bilateral feet, and hip instability. The neonate's clinical abnormalities in addition to genetic testing confirmed a diagnosis of trichor...

A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary arte...
https://doi.org/10.1002/ajmg.a.62562
American Journal of Medical Genetics. Part A; Rojnueangnit K, Phawan T et. al.

Nov 11th, 2021 - Adams-Oliver syndrome (AOS), a rare inherited disorder, is characterized by scalp and terminal limb defects. Several genes associated with Notch pathway mutations have led to AOS. Here, we report a Thai male newborn presenting with aplasia cutis c...

Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048247
BMC Anesthesiology; Suarez E, Bertoli MJ et. al.

Apr 17th, 2021 - Adams-Oliver syndrome is characterized by the combination of congenital scalp defects and terminal transverse limb defects. In some instances, cardiovascular malformations and orofacial malformations have been observed. Little is written with rega...

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939203
Medicine Tao Z, Bu S et. al.

Mar 4th, 2021 - Familial exudative vitreoretinopathy (FEVR) is an inherited disorder, which is mostly reported to be associated with the mutation of genes involved in the Wnt signaling pathway related to β-catenin. To the best of our knowledge, the involvement of...

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