Results 51 to 60 of about 73,709 (144)

A Novel Pathogenic Frameshift Variant Associated With Holt–Oram Syndrome: A Case Report

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Holt–Oram syndrome is an autosomal dominant disorder characterized by congenital heart defects and distal upper‐limb abnormalities. Pathogenic variants in TBX5, located on chromosome 12q24.1, cause Holt–Oram syndrome. We report a 10‐year‐old boy with bilateral thumb anomalies, a large secundum atrial septal defect, and sinus bradycardia who was found ...
Soyi Sarkar, Akshay N. Rana, Garrett Gianneschi, Peyman Bizargity, Juliana F. Mazzeu   +4 more
wiley   +1 more source

Strain‐Adaptive Liquid Metal Interfaces Overcome Poisson's Ratio Constraints in Piezoresistive Sensors for Infant Sleep Monitoring

Advanced Science, Volume 12, Issue 44, November 27, 2025.
 This work overcomes Poisson's ratio limitations in piezoresistive sensors via strain‐adaptive liquid metal (LM) interfaces. EGaIn‐coated TPU scaffolds enable directional LM flow to fill microcracks under deformation, achieving ultra‐high sensitivity (693.65 kPa-1).
Yuxiao Zhang, Chenchen Wang, Juan Tao, Shaoyu Ma, Siyu Xie, Weiwei Guo, Rongrong Bao, Jianbei Qiu, Yue Liu, Zhengwen Yang, Caofeng Pan   +10 more
wiley   +1 more source

Tetraploid–diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature

Clinical Case Reports, Volume 6, Issue 1, Page 103-108, January 2018., 2018
Tetraploid–diploid mosaicism in humans is exceedingly rare. We present an 11‐year‐old boy with tetraploid–diploid mosaicism and coexistent hair hypopigmentation with skin hypo‐ and hyperpigmentation. This case expands the current literature as we are not aware of previous documentation of this unique combination of pigmentary anomalies.
John Paul Schacht, Elisha Farnworth, Jacob Hogue, Luis Rohena   +3 more
wiley   +1 more source

Research into the correlation between positional skull deformation and motor performance of infants aged under 4 months

BMC Pediatrics, 2023
Objective To investigate the correlation between positional skull deformation (PD) and motor performance of infants under 4 months of age. Methods Infants aged under 4 months were enrolled in the children’s healthcare and the premature infants follow-up ...
Tianqi Huang, Wenzao Li, Chengju Wang, Fuxiang Qu, Qiuxia Yang, Qiuming Pan, Xiaoqin Pu, Can Xiao, Yi Cai, Meifeng Xia, Yuping Zhang   +10 more
doaj   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Validating the Accuracy of the ‘Measurement of Baby's Head Shape™’ Mobile Application

IEEJ Transactions on Electrical and Electronic Engineering, Volume 20, Issue 11, Page 1705-1716, November 2025.
In Japan, positional cranial deformities (PCD) have received limited attention. At present, objective evaluation of the severity of cranial deformity requires specialized equipment and software that are not suitable for screening. The ‘Measurement of a baby's head shape™’ (Japan Medical Company) application quantifies plagiocephaly and brachycephaly ...
Atsuko Nakahari, Shigeharu Hosono, Akira Gomi, Isao Kusakawa, Ichiro Tanaka   +4 more
wiley   +1 more source

Impact of parent practices of infant positioning on head orientation profile and development of positional plagiocephaly in healthy term infants [PDF]

, 2017
The influence of infant positioning on the development of head orientation and plagiocephaly is not clear. This study explored the relationship between infant body and head positioning, with the development of asymmetrical head orientation and/or ...
Leanne M. Johnston, Mandrusiak, Allison, Watter, Pauline, Leung, Amy, Pauline Watter, Johnston, Leanne M., Gavranich, John, Amy Leung, Allison Mandrusiak, John Gavranich   +9 more
core   +1 more source

[Positional plagiocephaly in infants can be prevented]

, 2011
The prevalence of positional plagiocephaly is increasing. A systematic database search (Cochrane, MEDLINE, Embase, Cinahl and PEDro), critical appraisal and systematic evaluation of the quality of 14 selected studies show that the following are certain ...
Christensen, Karen, Hoppe, Pernille, Knudsen, Birgit, Juhl, Carsten Bogh; id_orcid, Baagøe, Susanne, Buus, Lise, Jakobsen, Thomas Linding   +6 more
core   +1 more source

Assessment of Facial Asymmetry in Slovak Patients with Positional Deformity

Children
Objectives: Positional deformity (PD), also known as deformational plagiocephaly or non-synostosis, is a primary cause of abnormal head shape and asymmetry in infants.
Lenka Matejáková, František Horn, Petra Slaná, Andrej Plž, Maryam Zarinshad, Eva Štefánková   +5 more
doaj   +1 more source

Craniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report

Clinical Case Reports, Volume 12, Issue 11, November 2024.
ABSTRACT Craniosynostosis (CS) is the premature fusion of skull sutures, with all sutures except the metopic suture typically fusing in adulthood. Premature fusion constrains brain growth, leading to abnormal skull shape and potential neurocognitive or neurological issues, along with syndromic features in some cases. While CS is rare, its occurrence in
Tirth Bhavsar, Sachin Mahendrakumar Chaudhary, Sumesh Singh   +2 more
wiley   +1 more source