Results 131 to 140 of about 11,012 (235)

Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first‐trimester screening for chromosomal abnormalities

Ultrasound in Obstetrics and Gynecology, 2017
A. Syngelaki, L. Guerra, Irene Ceccacci, Tunay Efeturk, K. Nicolaides   +4 more
semanticscholar   +1 more source

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center. [PDF]

Int Med Case Rep J
Caropeboka MFA, Nisa AS, Pramatirta AY, Pribadi A, Mose JC.   +4 more
europepmc   +1 more source

Syndromic Alobar Holoprosencephaly Associated with a de novo 2p21p16.2 Contiguous Gene Deletion: A Neonatal Case Report. [PDF]

Mol Syndromol
Keçeci R, Keçeci HN, Büyükeren M, Yılmaz FH, Özcan B.   +4 more
europepmc   +1 more source

Monochorionic triamniotic (MCTA) triplet pregnancy complicated by TRAP sequence: successful management with ultrasound-guided radiofrequency ablation and favourable outcome. [PDF]

Matern Health Neonatol Perinatol
Singh C, Appannagari V, Gupta N, Goel S, Mohit N, Sundar J.   +5 more
europepmc   +1 more source

A Rare Case Report on Holoprosencephaly With Cyclopia: Jimma University Medical Center, Ethiopia. [PDF]

Case Rep Obstet Gynecol
Debela DT, Disasa FA, Girma A, Seto SJ.
europepmc   +1 more source

Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging. [PDF]

Neuroradiology
AlRayahi J, AlDasuqi K, AlSubhi M, Mubarak W, Al Walid O.   +4 more
europepmc   +1 more source

First Case Report of Agnathia-Otocephaly Complex Reported in Niger. [PDF]

Clin Case Rep
Diaouga HS, Dogbe YZKO, Garba RM, Nayama M.   +3 more
europepmc   +1 more source

Congenital Syngnathia With Holoprosencephaly: A Case Report of a Fatal Presentation in a Resource-Limited Setting. [PDF]

Clin Case Rep
Haile AM, Mengistie BT, Tamiru TY, Mengistie CT, Abebe DG, Haile BM.   +5 more
europepmc   +1 more source

Association Between Increased Nuchal Translucency and Foetal CNS Abnormalities in Euploid Foetuses: Systematic Review and Meta-Analysis. [PDF]

Diagnostics (Basel)
Mackina G, Ricci BM, Moser M, Chatzakis C, Nicolaides KH, Arechvo A.   +5 more
europepmc   +1 more source

Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies. [PDF]

J Med Genet
Graham SA, McCabe A, Harrison V, Castleman J, Doyle S, Allen S.   +5 more
europepmc   +1 more source