Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Autor: Helga Rehder, Susanne G. Kircher, Katharina Schoner, Mateja Smogavec, Jana Behunova, Ulrike Ihm, Margit Plassmann, Manuel Hofer, Helmut Ringl, Franco Laccone

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)

Abstract Background Diprosopus is a rare malformation of still unclear aetiology. It describes a laterally double faced monocephalic and single-trunk individual and has to be distinguished from the variant Janus type diprosopus. Results We examined s

Externí odkaz: https://doaj.org/article/15ffbb36b22a48a6baa3400af8cb7237

History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)

Autor: Lucas L. Boer, Susanne Gerit Kircher, Helga Rehder, Jana Behunova, Eduard Winter, Helmut Ringl, Anke Scharrer, Elke de Boer, Roelof‐Jan Oostra

Publikováno v: American Journal of Medical Genetics. Part A, 191, 5, pp. 1301-1324
American Journal of Medical Genetics. Part A, 191, 1301-1324
American journal of medical genetics. Part A, 191(5), 1301-1324. Wiley-Liss Inc.

Contains fulltext : 291894.pdf (Publisher’s version ) (Open Access) The collection of the Narrenturm in Vienna houses and maintains more than 50,000 objects including approximately 1200 teratological specimens; making it one of the biggest collecti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32528ead30c4f79d880c6a7ce557f766
https://repository.ubn.ru.nl/handle/2066/291894

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Autor: Franco Laccone, Martina Witsch-Baumgartner, Matthias Meyer‐Wittkopf, Helga Rehder, Johannes Zschocke, Barbara Fritz, Robert Petrovic, Annette Ramaswamy, Ralf Schmitz, Jana Behunova, Katharina Schoner, Britta Kluge, Susanne Gerit Kircher, Rainer Bald

Publikováno v: Birth Defects Research

Background Autosomal‐recessive SLOS is caused by mutations in the DHCR7 gene. It is defined as a highly variable complex of microcephaly with intellectual disability, characteristic facies, hypospadias, and polysyndactyly. Syndrome diagnosis is oft

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fc76ea07ac6734415342ad813fa634
https://doi.org/10.1002/bdr2.1620

Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX

Autor: Ralf Oheim, Thorsten Schinke, Katharina Schoner, Julian Stürznickel, Jozef Zustin, Floriane Hennig, Uwe Kornak, Maximilian M. Delsmann, Helga Rehder, Michael Amling, Alfons Kreczy, Katharina Jähn-Rickert

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchReferences. 36(6)

Multiple genes are known to be associated with osteogenesis imperfecta (OI), a phenotypically and genetically heterogenous bone disorder, marked predominantly by low bone mineral density and increased risk of fractures. Recently, mutations affecting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ded83f747375b477ddca6c73d4cbd14f
https://pubmed.ncbi.nlm.nih.gov/33596325

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

Autor: Jana Behunova, Susanne Gerit Kircher, Gabriel Gras, Helga Rehder, Ulrike Ihm, Thomas Taylor, Maria Gerykova Bujalkova, Franco Laccone

Publikováno v: Molecular Syndromology. 9:287-294

The recessive PIEZO2-associated disease, distal arthrogryposis with impaired proprioception and touch (DAIPT), is characterized by hypotonia, perinatal respiratory distress, significantly delayed motor milestones, and progressive symptoms of distal a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1c028c6a5801e512793df28e98770d31
https://doi.org/10.1159/000494451