Results 31 to 40 of about 600,328 (248)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Bilateral anterior sacral meningoceles in pregnancy without sacral anomaly: a case report of a rare clinical entity

Archives of Gynecology and Obstetrics
This report describes a 32-year-old primigravida diagnosed with bilateral anterior sacral meningoceles without bony defect of the sacrum during pregnancy.
Carla Oelgeschläger, C. Berg, B. Grüttner, T. Groten, E. C. Weber   +4 more
doaj   +1 more source

Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome

Frontiers in Genetics, 2022
Prenatal imaging phenotypes and genotypes were analyzed in 13 cases prenatally diagnosed with Joubert syndrome (JS), all of which underwent magnetic resonance imaging (MRI), ultrasound, and genetic testing.
Ling-Xi Huang, Xian-Gui Lu, Jiao-Xiang Liu, Ling Xu, Ning Shang, Li Guo, Yan-Chun OuYang   +6 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Fetal thoracoamniotic shunting for severe macrocystic congenital pulmonary airway malformation with the Somatex® intrauterine shunt: intrauterine course and postnatal outcome

Archives of Gynecology and Obstetrics
Purpose Thoracoamniotic shunting (TAS) in fetuses with macrocystic congenital pulmonary airway malformation (CPAM) is mostly performed with pigtail shunts like the rocket shunt or the Harrison fetal bladder stent.
C. Oelgeschläger, E. C. Weber, I. Gottschalk, J. Jimenez-Cruz, A. Geipel, B. Strizek, J. Kohaut, M. Dübbers, C. Oetzmann von Sochaczewski, A. Heydweiller, C. Berg   +10 more
doaj   +1 more source

Factors associated with the timing of the first prenatal ultrasound in Canada

BMC Pregnancy and Childbirth, 2019
Background The aim of this study was to investigate the factors associated with the timing of the first prenatal ultrasound in Canada. Methods This was a secondary data analysis of the Maternity Experiences Survey, a cross-sectional survey covering ...
Peri Abdullah, Christine Kurtz Landy, Hugh McCague, Alison Macpherson, Hala Tamim   +4 more
doaj   +1 more source

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes

Frontiers in Genetics, 2023
Uniparental disomy (UPD) refers to as both homologous chromosomes inherited from only one parent without identical copies from the other parent. Studies on clinical phenotypes in UPDs are usually focused on the documented UPD 6, 7, 11, 14, 15, and 20 ...
Qi Chen, Yunpeng Chen, Lin Shi, Ying Tao, Xiaoguang Li, Xiaolan Zhu, Yan Yang, Wenlin Xu   +7 more
doaj   +1 more source

Fetal MRI : an essential step in interpreting complex ultrasound findings [PDF]

, 2016
Background: Fetal magnetic resonance imaging (MRI) allows for the interpretation of complex fetal anomalies detected on ultrasound (US). Locally it has been available since 2013 but has remained underused.
Gatt, Andre Stefan, Baldacchino, Ian, Saliba, Isabelle   +2 more
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Correlation of adenomyosis features to live birth rates after the first IVF/ICSI treatment, when using the revised Morphological Uterus Sonographic Assessment group definitions

Acta Obstetricia et Gynecologica Scandinavica
Introduction Data regarding the impact of adenomyosis on the outcomes after in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) treatment are conflicting.
Sara Alson, Emir Henic, Stefan R. Hansson, Povilas Sladkevicius   +3 more
doaj   +1 more source