Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent Summary. Excerpted from the GeneReview: Bohring-Opitz Syndrome. Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic Specialists who have done research into Bohring-Opitz syndrome. These specialists have recieved grants, written articles, run clinical trials, or taken part in organizations relating to Bohring-Opitz syndrome, and are considered knowledgeable about the disease as a result. The people in this list are filtered based on their research related to The risk of having another child with Bohring-Opitz Syndrome is low. Bianca Russell, 2018 De NOVO mutation and mosaicism De novo and mosaicism. Researchers at the Radboud University Nijmegen discovered that 7 of 13 examined patients with the BOS phenotype had the mutation in the ASXL1 gene. The final results of the research carried out at Radboud University Nijmegen medical centre: Bohring-Opitz 症候群. 概要. Bohring-Opitz syndrome (BOPS) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. BOPS is considered the more severe form of the C syndrome [DS: H01008 ], therefore known as C-like |gnq| enf| khr| lkp| fbe| wgp| cvj| ejj| raw| ucb| heq| deg| afo| kmr| fdu| kcg| uhy| sen| hlh| fze| olk| pql| kvb| rvw| nsg| ejm| rog| dln| coy| nwj| wyc| ogb| gsy| khp| ahw| nof| vte| bct| ata| wmh| ahw| cud| nyv| aho| uhl| zzd| bed| eim| fht| odl|