Results 71 to 80 of about 14,000 (248)

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Optimal Resources for Children's Surgery 2: Tiered Recommendations for Minimum Essential Children's Surgical Procedures Across Health System Levels

World Journal of Surgery, EarlyView.
In 2015 the World Health Assembly (WHO), based on recommendations by the Lancet Commission on Global Surgery, passed resolution (68:15) on strengthening emergency and essential surgical care and anesthesia as a component of universal health coverage. However, children's surgery was not adequately represented and in response, the Global Initiative for ...
Arpita Biswangree, Emmanuel A. Ameh, Kokila Lakhoo, Mohamed Shalaby, Sarah Beth Cairo, on behalf of GICS Membership, Abdelhafeez Hafeez, Dayang A Abdul Aziz, Abdur‐Rahman Lukman Olajide, Simone Abib, Mohammed J. Aboud, Abu Bakr Abdullah Adam Amal, Maimuna Abubakar, Piero Ali Alberti, Abdelbasit Elsayed, Abdullah Mohd Yusof, Abellar Hilda, Acharya Utsav, Amaraegbulam Peace Ifeoma, Amde Samuel Negash, Antoine Seraphin Gbenou, Arca Marjorie, Axt Jason, Banu Tahmina, Bezuhly Michael, Biswangree Arpita, Marilyn W. Butler, Michael Buzuhly, Sarah B. Cairo, Juan Francisco Campos Rodezno, Maija Cheung, Chirdan Lohfa, Milind Chitnis, Zachary Clapp, Hannah Cockrell, Aline Coltro, Deshpande Gaurav, Diao Mei, Donou Amivi Alice, Beda Espineda, Faye M. Evans, Ewnte Biniam, Fadhili Bake Jacques, Faktor Kara, Farmer Diana Lee, Gaffar Ilijana, Ganey Michael, Gathuya Zipporah, J. F. Gonzalez‐Zamora, Christa N. Grant, Gray Rebecca Crane, Hasnaien Ahmed, Hettiarachchi Mathula, Hsu Phillip, Ibrahim Rahma Wala Mohammed, Romeo C. Ignacio, Inglin Sophie, Islam Saleem, Kageni Maina Reuel, Kengo Nathan Ezie, Kisa Phyllis, Lakhoo Kokila, Langer Monica, Leodoro Basil, Lindert Judith, Lobos Pablo Andrés, Løfberg Katrine, Madhuri Vrisha, Martin Yturralde Erick, Mazingi Dennis, Mcleod Elizabeth Jane, John G. Meara, Felicity Vidya Mehendale, Felicity Vidya Mehendale, Milano Leecarlo, Hanifah N. A. Mohd, Moreno Amabelle, Mpongo Yves, Mrutu Salehe, Muthumani Abirami, Nah Shireen Anne, Naik‐Mathuria Bindi, Nandi Biplab, Ramesh M. Nataraja, Newton Odongo Charles, Nimanya Stella Alice, Nixon Cathrine, Ntegerejuwampaye Angélique, Obi Nkeiruka, Obisesan Aderonke Omoyeni, Odera Agneta, Ondima Lucienne Irene Patricia, Maryrose O. Osazuma, Owusu Ofori Emmanuel, Ozgediz Doruk, Pacheco Cesar Hector Alberto, Patel Nirav, Peer Shazia, Phelps Janey, Pilkington Mercedes, Poenaru Dan, Ravindran Vinitha, Rolle Udo, Saldaña Gallo Lily, Saleh Abdullah, Samad Lubna, Sedano Sabrina, Sethi Bijaya Kumar, Justina Seyi‐Olajide, Shalaby Mohamed Sameh, Sharma Mehek, Siddiqui Sabina, Stephens Caroline, Stoltz Judith, Talat Nabila, Warwick J. Teague, Tekant Gonca, Tumba Kapaso Nadyn, Wildhaber Barbara, Ava C. Yap, Zanon Nelci, Zope Madhushree   +121 more
wiley   +1 more source

Kinematic differences in the presentation of recurrent congenital talipes equinovarus (clubfoot)

, 2022
Background The tibialis anterior tendon transfer (TATT) is the suggested surgical intervention in the Ponseti method for treatment of dynamic recurrent congenital talipes equinovarus (clubfoot) presenting as hindfoot varus and forefoot supination during ...
Johnson, Liam, Carty, Christopher P, Bade, David, Giacomozzi, Claudia, Horan, Sean, Brierty, Alexis, Sean Horan, Christopher P. Carty, Liam Johnson, David Bade, Alexis Brierty, Claudia Giacomozzi   +11 more
core   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology

, 2017
Background: Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible.
Sanzarello Ilaria, Faldini Cesare, Fenga Domenico, Traina Francesco, Nanni Matteo, Rosa Michele Attilio A.   +5 more
core   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Ηip dysplasia in children with spina bifida after prenatal surgical closure

Developmental Medicine &Child Neurology, EarlyView.
Neonatal hip morphology following prenatal closure remains poorly characterized. This study is the first to compare the prevalence of sonographically detectable hip dysplasia in children who underwent prenatal closure for spina bifida with that of the general infant population.
Domenic Grisch, Aurelia Hof, Charlotte Vlachopoulos, Spina Bifida Study Group Zurich, Barbara Casanova, Ruth Etter, Patrice Grehten, Sandra Fernandez‐Diaz, Cornelia Hagmann, Maya Horst Luethy, Raimund Kottke, Niklaus Krayenbuehl, Markus A. Landolt, Bea Latal Hajnal, Andrea Lehmann, Luca Mazzone, Andreas Meyer‐Heim, Carolin Meyer zu Spradow, Theres Moehrlen, Ueli Moehrlen, Svea Muehlberg, Timothy Müller, Beth Padden, Susanne Polentarutti, Antonin Prouza, Evelyne Riesen, Brigitte Seliner, Mithula Shellvarajah, Selma Sirin, Alexandra Wattinger, Noemi Zweifel, Lukas Kandler, Nicole Ochsenbein, Nele Struebing, Max Antonio Thomasius, Ladina Vonzun, Britta K. Krautwurst, Christos Tsagkaris, Thomas Dreher   +38 more
wiley   +1 more source

Neurodevelopmental difficulties in children with idiopathic clubfoot

, 2019
Aim: To evaluate neurodevelopmental difficulties in children with idiopathic clubfoot. Method: A cross-sectional study of 106 children (29 females, 77 males; aged 8–10y) with idiopathic clubfoot and 109 age-, sex-, and residential area-parallelized ...
Marie André, Broström, E., André, M., Lööf, E., André, Marie, Andriesse, Hanneke, Andriesse, H., Elin Lööf, Sven Bölte, Lööf, Elin, Eva W Broström, Hanneke Andriesse, Broström, Eva W.,, Brostrom, EW, Broström, Eva W, Bölte, Sven,, Loof, E, Andriesse, H, Andre, M, Andriesse, Hanneke,, Lööf, Elin,, André, Marie,, Bolte, S, Bolte, Sven, Lund University.   +24 more
core   +2 more sources

The potential of machine learning in classifying relapse and non-relapse in children with clubfoot based on movement patterns

Scientific Reports
The diverse nature and timing of a clubfoot relapse pose challenges for early detection. A relapsed clubfoot typically involves a combination of deformities affecting a child’s movement pattern across multiple joint levels, formed by a complex kinematic ...
Lianne Grin, Sieglinde Bogaert, Saskia Wijnands, Arnold Besselaar, Marieke van der Steen, Jesse Davis, Benedicte Vanwanseele   +6 more
doaj   +1 more source