Results 111 to 120 of about 8,514 (222)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 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  

Trimerous magnoliid flowers with a unique set of floral and pollen traits from the Late Cretaceous of Southern Bohemia (Czech Republic)

New Phytologist, Volume 251, Issue 4, Page 2266-2283, August 2026.
Morphospace position and phylogenetic placements of Trimeriantha monopolyada. Summary Floral structure is a key aspect of angiosperm diversity. Recent research revealed that significant floral disparity was already present in the Cretaceous. However, our understanding of early floral diversity remains limited, as it is directly dependent on the fossil ...
Xieting Wu, Maria von Balthazar, Friðgeir Grímsson, Silvia Ulrich, Andrea M. López‐Martínez, Zuzana Heřmanová, Jiří Kvaček, Jürg Schönenberger   +7 more
wiley   +1 more source

Endoscopic‐Assisted Posterior Atlantoaxial Fusion: Technical Innovation and Clinical Experience

Orthopaedic Surgery, Volume 18, Issue 8, Page 1768-1782, August 2026.
Endoscopic‐assisted posterior atlantoaxial lateral mass fusion is introduced as a novel minimally invasive technique for treating atlantoaxial instability. The approach enables direct visualization, precise fixation, and effective bone fusion while minimizing muscle dissection, blood loss, and postoperative pain, achieving rapid neurological and ...
Jichong Zhu, Chengqian Huang, Jiang Xue, Jiarui Chen, Yufan Xu, Dequan Liu, Xinli Zhan, Chong Liu   +7 more
wiley   +1 more source

Isolated Unilateral Heptadactyly With Combined Preaxial and Postaxial Polydactyly of the Foot in a 9-Month-Old Infant. [PDF]

Case Rep Orthop
Mallilah BP, Marua EP, Kafanabo CB, Mwasulile GL, Moshi PG.   +4 more
europepmc   +1 more source

Foot and Ankle Deformities in Fibular Hemimelia: Narrative Review. [PDF]

Orthop Rev (Pavia)
AlShayhan F.
europepmc   +1 more source

Management of Lower-Extremity Deformity in Arthrogryposis Multiplex Congentia: A Narrative Review. [PDF]

Med Sci Monit
Shang Y, Xu J.
europepmc   +1 more source

The Burden of Lower Limb Deformities in Low- and Lower-Middle-Income Countries: A Scoping Review. [PDF]

J Pediatr Soc North Am
Montoya RL, Agoro KS, Jodah R, Sabharwal S, Sabatini CS.   +4 more
europepmc   +1 more source

Reconstructive Surgery for Foot Ectrodactyly in an Adolescent Patient: A Case Report. [PDF]

J Orthop Case Rep
Meceda CJS, Tablante AJC, Tablante EB.
europepmc   +1 more source