Results 41 to 50 of about 6,957 (222)

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Collaboration between Paediatrician and Orthopaedician in Management of Congenitial Talipes Equino Varus by Ponseti Method [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: Congenital Talipes Equino Varus (CTEV) or Clubfoot is one of the commonest orthopaedic problems observed in infants. Deformity involving in utero malalignment of calcaneo-talar-navicular complex of the foot is known as CTEV. Due to lack
JB SANTHOSHA, SP AKSHATHA
doaj   +1 more source

Dermatoglyphic findings in congenital clubfoot [PDF]

Congenital Anomalies, 2000
ABSTRACT  The dermatoglyphics of the hand of 33 male and 17 female, a total of 50 patients with congenital clubfoot deformity (CFD) were compared with those of 250 male and 250 female, a total 500 control cases. The most remarkable dermatoglyphic findings observed in CFD were the decreased frequency of ulnar loops and the increased frequency of whorls ...
Turhan, A. Bülent, Atasu, Metin, Paydak, Ferhan, Kutlu, Abdurrahman   +3 more
openaire   +2 more sources

Hallux Valgus and Associated Foot Pathology in Ancient Egyptian Mummies: A Qualitative and Quantitative Computed Tomography Study

International Journal of Osteoarchaeology, EarlyView.
ABSTRACT The aim of this study was to gain information on the prevalence and manifestation of hallux valgus and associated foot pathology in ancient Egyptian mummies. Additionally, we investigated possible indicators of postmortem deformation of the feet during mummification. For this study, 34 mummies that had undergone whole body computed tomography (
Stephanie Panzer, Peter Augat, Klaus Hergan, Alice Paladin, Stephanie Zesch, Wilfried Rosendahl, Randall C. Thompson, Albert R. Zink   +7 more
wiley   +1 more source

Tibiofibular torsion in congenital clubfoot [PDF]

Journal of Pediatric Orthopaedics B, 2012
Tibiofibular torsion was measured by computed tomography in three series of patients affected by congenital clubfoot who were treated with different protocols. The normal leg of unilateral deformities served as the control. For the bilateral cases, only the right side was included in the study. The angle between the bicondylar axis of the tibia and the
FARSETTI, PASQUALE, DRAGONI, MASSIMILIANO, IPPOLITO, ERNESTO   +2 more
openaire   +3 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Heritability of clubfoot: A twin study

Journal of Children's Orthopaedics, 2014
Introduction The aetiology of congenital clubfoot is unclear. Although studies on populations, families, and twins suggest a genetic component to the aetiology, other studies have identified environmental factors.
Vilhelm Engell, Jan Nielsen, Frank Damborg, Kirsten Ohm Kyvik, Karsten Thomsen, Niels Wisbech Pedersen, Mikkel Andersen, Søren Overgaard   +7 more
doaj   +1 more source

Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology

Folia Medica, 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.
Faldini Cesare, Fenga Domenico, Sanzarello Ilaria, Nanni Matteo, Traina Francesco, Rosa Michele Attilio A.   +5 more
doaj   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Does Percutaneous Achilles Tenotomy Yield Comparable Short-Term Outcomes to Combined Open Achilles Tenotomy with Posterior Capsulotomy in Pediatric Patients with Clubfoot?

Foot & Ankle Orthopaedics, 2019
Category: Hindfoot, Midfoot/Forefoot, Congenital Introduction/Purpose: As the most common musculoskeletal congenital anomaly, clubfoot (congenital talipes equinovarus) represents a commonly-encountered entity for pediatric orthopaedic and foot/ankle ...
Marine Coste BA, Mikhail Tretiakov MD, Neil V. Shah MD, MS, Daniel M. Zuchelli MD, Joanne C. Dekis MD, Scott C. Pascal MD, Leslie N. Davidson MD, Claude B. Scott MD, PhD, Khalid Hesham MD, Jaime A. Uribe MD   +9 more
doaj   +1 more source