Results 51 to 60 of about 11,948 (181)

Clinical Characterization of Skin Findings on the Hands in Proteus Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Background Proteus syndrome is a progressive asymmetric overgrowth disorder caused by mosaic activating variants in AKT1. It most frequently affects the skin, soft tissues, bones, and central nervous system and increases the risk for certain tumors and venous thromboembolism. A hallmark feature is the progressive plantar cerebriform connective
Samantha D. Verling, Nicole Gaidici, Leslie G. Biesecker, Thomas N. Darling, Christopher A. Ours   +4 more
wiley   +1 more source

Optimising the workflow for infant ABO blood typing: The role of automated analyser and a manual reflex protocol

Transfusion Medicine, EarlyView.
Abstract Objectives We aimed to optimise the infant ABO typing workflow by evaluating the performance of the ORTHO VISION analyser (VISION; QuidelOrtho, San Diego, CA, USA) and establishing a targeted manual reflex protocol. Background The application of automated analysers in infants poses challenges due to weak antigen and antibody expression ...
Eunhui Ji, Seung Hwan Oh, Sun Min Lee, In‐Suk Kim, Hyun Ji Lee   +4 more
wiley   +1 more source

Polydactyly

Seminars in Plastic Surgery
Abstract Polydactyly of the hand is among the most common congenital anomalies of the upper extremity and encompasses a broad range of anatomic and functional presentations. It is characterized by a duplicated digit, which may occur as an isolated finding or in association with genetic syndromes.
Julian J. Gonzales, Vamsi C. Mohan, Samuel P. Griffin, Richard Appel, Andrea C. Tian   +4 more
  +5 more sources

Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly

Frontiers in Pediatrics, 2020
CTNNB1 gene mutation was firstly reported related to intellectual disability in 2012, to explore the clinical phenotype and genotype characteristics of CTNNB1 mutation, we collected and analyzed the clinical data of a child with a neurodevelopmental ...
Zhongling KE, Yanhui CHEN
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

A Case of Polydactyly in a Roe Deer (Capreolus capreolus) From Germany

Anatomia, Histologia, Embryologia, Volume 55, Issue 5, September 2026.
ABSTRACT Polydactyly is a rare anomaly that has been described in many vertebrate species including several deer species. The case described in this communication is believed to be only the second documented example of additional metatarsae in roe deer (Capreolus capreolus).
Johannes Lang, Sarah P. Stubbe, Carsten Staszyk, Michael Lierz   +3 more
wiley   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome

Case Reports in Pulmonology, 2015
Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities ...
Nihat Demir, Erdal Peker, İbrahim Ece, Sultan Kaba, Kemal Ağengin, Oğuz Tuncer   +5 more
doaj   +1 more source

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

Cardiogenetics, 2011
Atrioventricular canal defect (AVCD) is a common congenital heart defect (CHD), representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly.
M. Cristina Digilio, Paolo Versacci, Francesca Lepri, Anwar Baban, Bruno Dallapiccola, Bruno Marino   +5 more
doaj   +1 more source