Divers

During the last Annual Meeting of the PPS held in Madrid this year, one of the oral presentations was about heterotopic liver tissue in the placenta. The published literature is poor and it became clear during the discussion that several colleagues had seen similar cases but not published them. Not only liver tissue heterotopia is found in the placenta, but also cortical adrenal tissue, adipose tissue and even a case… Lire la suite »Call for cases of Heterotopic Tissues in placenta

Targeted gene/phenotype/disorder under study:WBP11 (OMIM # 619227) AbstractWBP11 (WW domain binding protein 11) plays a critical role in mRNA processing and the Notch signaling pathway. Loss-of-function WBP11 variants have previously been associated with VATER association (PMID: 33276377).We have identified a family with dominantly inherited deleterious WBP11 variation. Clinical features include complex segmentation defects, kidney hypoplasia, and prenatal cerebellar stroke.We aim to characterize the phenotypic spectrum of this dominant VATER association… Lire la suite »Phenotypic characterization of a WBP11-related pseudo-VATER syndome

Mémoire DIU Encours 2023 Objectifs : Nous recherchons des cas fœtaux de syndrome de Barstocas Papas pour un Mémoire de DIU de Pathologie Fœtale et Placentaire cette année. Ce syndrome associe typiquement des ptérygiums poplités et des anomalies du revêtement cutané responsables d’ oligosyndactylie, d’ankyloblépharon, et “d’imperforations des différentes cavités” (bouche , narines, anus, OGE). Des mutations de RIPK4 et de CHUK impliqués dans la différenciation kératinocytaire ont été décrits.… Lire la suite »Cas foetaux de Barstocas Papas syndrome