Results 51 to 60 of about 2,906,821 (168)

Utility of the “seagull” flap for unoperated simple complete syndactyly in adults

British Journal of Plastic Surgery, 1988
The versatility of the seagull flap for creating a new web in adults' unoperated simple congenital syndactyly is described. The technique can produce a realistic web that does not subsequently advance distally and is wide enough to allow adequate digital separation when fingers are abducted.
openaire   +2 more sources

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

V-Y and rectangular flap combination for syndactyly repair

, 2016
Objective: For syndactyly repair, several delicate, well-planned flap combination techniques have been reported. This study presents technique details with functional and aesthetic results of a dorsal rectangular and volar V-Y advancement flap ...
Selimoğlu, Muhammed Nebil, Karameşe, Mehtap, Akdağ, Osman, Yıldıran, Gökçe Ünal, Tosun, Zekeriya   +4 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

UNUSUAL CASE OF SYNDACTYLY IN A DOG

, 2012
A case of syndactyly in all four limbs is described in a 3-month-old male inbred dog. Clinical and radiographic findings are described. Syndactyly is a rare condition in most animal species. In dogs, this condition has been infrequently reported.
SFACTERIA, Alessandra, RAPISARDA, GIUSEPPE SANTI, De Stefano C, MACRI', Francesco, MARINO, Gabriele   +4 more
core   +1 more source

Case Report of Bilateral 3-4 Metatarsal Syndactyly in a Pet Rabbit [PDF]

, 2016
We report the first case of spontaneous syndactyly reported in a pet rabbit. Syndactyly only caused an atypical gait in the rabbit. The radiological study revealed bilateral 3rd and 4th metatarsal bones fused in its entire length preserving normal joint ...
L. Avedillo, M. Gallego
core   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

Clinical experience using the dorsal reverse metacarpal flap for the treatment of congenital syndactyly: Report of four cases

, 2003
Skin grafts and local flaps are conventional methods of repair for simple complete syndactyly, but the results obtained are not always as functional and aesthetic as desired and frequently leave postoperative scars and residual syndactyly.
Villaran-Munoz, B., Gonzalez-Ojeda, A., Segura-Castillo, J.L., Vergara-Calleros, R.   +3 more
core   +1 more source

Surgical Management of Foot Syndactyly: The State of the Art and a Treatment Algorithm Based on a Literature Review. [PDF]

J Clin Med
Objectives: This systematic review provides an in-depth analysis of the surgical treatment of foot syndactyly, offering insights into the various options and their applications.
Artioli E, Cargeli A, Mazzotti A, Zielli SO, Arceri A, Langone L, Sgubbi F, Di Paola G, Faldini C.   +8 more
europepmc   +3 more sources