Results 71 to 80 of about 244,602 (192)

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, Volume 54, Issue 6, Page 1335-1348, July/August 2026.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

The congenital clubfoot – immunohistological analysis of the extracellular matrix

, 2018
Arno Kerling,1 Gisela Stoltenburg-Didinger,2 Lena Grams,1 Uwe Tegtbur,1 Hauke Horstmann,1 Momme Kück,1 Holger Mellerowicz3 1Institute of Sports Medicine, Hannover Medical School, Hannover, Germany; 2Gisela Stoltenburg-Didinger, Institute of Cell and
Stoltenburg-Didinger G, Horstmann H, Grams L, Tegtbur U, Mellerowicz H, Kerling A, Kück M   +6 more
core  

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

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
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

Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This finding may broaden the pathogenic variant of c.1327G> A in the KLHL40 gene causing NEM8 and clarify the genotype and phenotype correlation. ABSTRACT Background Nemaline myopathy (NEM) is a rare congenital muscular disorder characterized by slow progression or static neuromuscular symptoms, which is mainly caused by variants in genes encoding the ...
Jianlong Zhuang, Meiling Hong, Qiumei Huang, Yuying Jiang, Junyu Wang   +4 more
wiley   +1 more source

The genetics of isolated and syndromic clubfoot

Journal of Children's Orthopaedics, 2019
Purpose Congenital clubfoot is a serious birth defect that affects nearly 0.1% of all births. Though there is strong evidence for a genetic basis of isolated clubfoot, aside from a handful of associations, much of the heritability remains unexplained ...
B. Sadler, C. A. Gurnett, M. B. Dobbs
doaj   +1 more source

CLUBFOOT RECCURENCES AFTER THE TREATMENT BY PONSETI

Travmatologiâ i Ortopediâ Rossii, 2013
Congenital clubfoot is one of the most frequent pathologies of the musculoskeletal system. The treating of clubfoot by Ponseti gives promising results and complete correction of the deformity in 90-95% of patients sparing them from extensive surgery.
V. F. Blandinskiy, M. A. Vavilov, I. V. Gromov   +2 more
doaj   +1 more source

Congenital clubfoot: results of treatment of 54 cases

, 1984
Fifty-four patients with congenital clubfoot (total: 82 club feet) were observed at the 2nd Department of Orthopaedic Surgery of Rome University from 1970 to 1980.
FARSETTI, PASQUALE, IPPOLITO, ERNESTO, Ricciardi Pollini, P, TUDISCO, COSIMO   +3 more
core   +1 more source

A rare accessory muscle as a less recognized factor in clubfoot recurrence: A systematic review and three cases presentation

Foot & Ankle Surgery: Techniques, Reports & Cases
Congenital Talipes Equinovarus or Clubfoot is the most common congenital foot malformation in newborns, with recurrence rates of 14–40 % despite optimal treatment.
Lubenga Ali Baba Athos, MD, Shchukin Andriy, MD, Beyer Benoît, PhD, Ngomba Wa Ilunga Sylvie, MD, Nyembo Selemani Emile, MD, Arung Kalau Willy, PhD, MD, Panda Mulefu Jules, PhD, MD, Dereymaeker Greta, PhD, MD, Van Sint Jan Serge, PhD   +8 more
doaj   +1 more source

Mid-term results of ponseti method for the treatment of congenital idiopathic clubfoot - (A study of 67 clubfeet with mean five year follow-up)

Journal of Orthopaedic Surgery and Research, 2011
Background Long-term success reports by Dr. Ponseti with the Ponseti method in the treatment of congenital idiopathic clubfoot have led to a renewed interest in this method among pediatric orthopedists.
Chavda Hiral R, Parmar Dipak S, Porecha Milind M   +2 more
doaj   +1 more source

A 30 Year Functional Follow-up of a Neglected Congenital Clubfoot in an Adult: A Case Report

, 2000
Neglected congenital clubfoot in adults has been described in literature, but is not common to see adult patients with this orthopaedic disorder in developed countries with 30 years of follow-up.
Norman Y. Otsuka, Chatupon Chotigavanichaya, Guillermo Salinas   +2 more
core   +1 more source