ALLMedicine™ Oliver Syndrome Center
Research & Reviews 48 results
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...
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...
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...
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...
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...