Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report

Autor: Geta G, Mesfin T, Tsegaye M, Bobe T, Bikila B, Hailu FC, Dejene T

Publikováno v: Research and Reports in Neonatology, Vol Volume 14, Pp 35-38 (2024)

Girma Geta,1 Telila Mesfin,2 Mesfin Tsegaye,2 Tufa Bobe,3 Bonsa Bikila,1 Feleke Chefik Hailu,4 Tafese Dejene5 1Madda Walabu University, Goba General Hospital, Department of Midwifery, Goba, Oromia, Ethiopia; 2Madda Walabu University, Goba General Hos

Externí odkaz: https://doaj.org/article/1f48a736a2904dfc9c2d6d110e20b255

Typical changes of ethmocephaly and holoprosencephaly in a fetus at 14 weeks of gestation

Autor: C Allerstorfer, Reinhard Altmann, Wolfgang Arzt, I Scharnreitner

Publikováno v: Case Reports in Perinatal Medicine. 8

Background This case report is to show the details of the face of a very rare ethmocephaly at 14 weeks of gestation. Case presentation After the regular transabdominal two-dimensional (2D) scan for nuchal translucency we could describe the following

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5789ca7fd63cc46f5bbb33a1948aa3dc
https://doi.org/10.1515/crpm-2018-0042

Molecular analysis of holoprosencephaly in South America

Autor: Clarice Pagani Savastano, Kênia Balbi El-Jaick, Têmis Maria Félix, Eduardo E. Castilla, Denise P. Cavalcanti, Fernando Regla Vargas, Marcelo Aguiar Costa-Lima, Hector N. Seuanez, Juan C. Llerena, Cristina Maria Batista Abath, Miguel Ângelo Martins Moreira, Gioacchino Scarano, Iêda M. Orioli, Sebastiano Bianca

Publikováno v: Genetics and Molecular Biology, Volume: 37, Issue: 1 Supplement 1, Pages: 250-262, Published: 2014
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 250-262 (2014)
ResearcherID
Genetics and Molecular Biology v.37 n.1 suppl.1 2014
Sociedade Brasileira de Genética (SBG)
instacron:SBG

Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microfo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f2900dcd4a7766238752510befda265
https://doi.org/10.1590/s1415-47572014000200011

Embryogenesis of holoprosencephaly

Autor: Shigehito Yamada, Munekazu Komada, Kohei Shiota, Makoto Ishibashi

Publikováno v: American Journal of Medical Genetics Part A. :3079-3087

Holoprosencephaly (HPE) is a malformation of the human brain caused primarily by incomplete division of the prosencephalon into two halves and is often associated with various facial anomalies. Although HPE is rather rare in newborns (1/10,000-15,000

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d739119a7ecd80ba9399201c4bc72652
https://doi.org/10.1002/ajmg.a.32020

Ethmocephaly with amniotic band syndrome

Autor: Sibnath Gayen, Sabyasachi Bandyopadhyay, Gobinda Das, Debabrata Das

Publikováno v: Middle East African Journal of Ophthalmology

Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. Amniotic band syndrome is another r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::405b248191bf9613be545e699d3faf9e
https://pubmed.ncbi.nlm.nih.gov/23248551