Results 141 to 150 of about 48,690 (312)

Congenital Clubfoot with Agenesis of the 4th and 5th Toes: A Case Report and Review of the Literature on Skeletal Malformations

Osteology
Background/Objectives: Congenital clubfoot (CC) is one of the most common congenital deformities of the lower limbs, typically presenting as a complex skeletal malformation.
Giuseppe Vena, Gualtiero Cipparrone
doaj   +1 more source

Early results of the ponseti method for the treatment of clubfoot in distal arthrogryposis [PDF]

, 2008
Alaee, Farhang, Boehm, Stephanie, Dobbs, Matthew B., Limpaphayom, Noppachart, Sinclair, Marc F.   +4 more
core   +2 more sources

Tibiotalare Arthrodese bei angeborener Fibulaaplasie [PDF]

, 2018
Zusammenfassung: Das Problem: 10-jähriger Patient mit angeborenen Fibulaaplasien beidseits. Auf der linken Seite extreme Valgusfehlstellung des dreistrahligen Fußes im oberen Sprunggelenk mit schmerzhaften Funktionsstörungen beim Stehen und Gehen, die ...
Exner, G.
core  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Long-term follow-up of patients with clubfeet treated with extensive soft-tissue release [PDF]

, 2006
Dobbs, Matthew B., Nunley, Ryan, Schoenecker, Perry L.   +2 more
core   +2 more sources

Defektmissbildungen an den unteren Extremitäten [PDF]

, 2018
Zusammenfassung: Missbildungen mit Defekten an den unteren Extremitäten sind selten. Sie entstehen in der Regel als toxische Schädigung während der Schwangerschaft zwischen der 4. und der 12.Woche. Es gibt auch solche mit hereditären Ursachen.
Hefti, F.
core  

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

Clinical Genetics, Volume 109, Issue 3, Page 558-563, March 2026.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer, Matt Edwards, Thomas Macdougall, Anne Baxter, Himanshu Goel   +4 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Metatarsal Transfer for Atypical Phenotype of Foot Polydactyly: A Case Report

Journal of Plastic and Reconstructive Surgery
Polydactyly of the foot is one of the most frequently observed congenital deformities. Although resection of the extra phalanx generally leads to a favorable outcome, functional disorder may sometimes occur. We present a rare case of bilateral metatarsal-
Yasufumi Makiuchi, Izumi Ban, Yuji Kuroyanagi, Kiyonori Harii   +3 more
doaj