Results 81 to 90 of about 10,616 (248)

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

The Argenta Classification for Positional Plagiocephaly in Infants: An Inter- and Intra-Rater Reliability Study

Applied Sciences
Positional plagiocephaly is a common condition in infants, characterized by asymmetrical posterior occipital flattening due to external mechanical pressure. The Argenta classification is an observational diagnostic tool that classifies plagiocephaly into
Hilla Sarig Bahat, Naama Eyal, Lisa David, Rachel B. Zauberman, Yaara Verfel-Kaplan, Hagit Hel Or, Yoav Alkan   +6 more
doaj   +1 more source

Parents' Perspectives and Clinical Effectiveness of Cranial-Molding Orthoses in Infants With Plagiocephaly [PDF]

Annals of Rehabilitation Medicine, 2018
Objective To investigate the clinical effectiveness of and parents’ perspectives on cranial-molding orthotic treatment. Methods Medical charts were reviewed for 82 infants treated for plagiocephaly with cranial-molding orthoses in our clinic from April ...
Hyo Sun Lee, Sang Jun Kim, Jeong-Yi Kwon
doaj   +1 more source

Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly [PDF]

, 2018
Introduction: When a child walks in the clinic with a unilateral frontal flattening, it is usually associated in our minds with unilateral coronal synostosis.
Czorny, Alain, de Ribaupierre, Sandrine, Jacques, Bertrand, Pittet, Brigitte, Rilliet, Benedict   +4 more
core  

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly [PDF]

, 2016
Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype
Anne Debant, Ba, Barbelanne, Bellanger, Bragin, Briançon-Marjollet, Cannet, Catherine Mercer, Chhatriwala, Christine Fagotto-Kaufmann, David Goudie, de Ligt, DeLano, Dent, Dent, Deo, Diana Baralle, Eleanor G Seaby, Estrach, Etienne-Manneville, Govek, Grix, Hu, Huber, M Reza Jabalameli, Ma, McLaren, McPherson, Mercer, Michael J Parker, O'Brien, Peng, Pengelly, Pengelly, Portales-Casamar, Reuben J Pengelly, Robinson, Sarah Ennis, Sarju G Mehta, Schmidt, Skowronek, Stephanie Greville-Heygate, Susanne Schmidt, van Bokhoven, van Haren, Zong   +45 more
core   +5 more sources

The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT North Sea‐Progressive Myoclonus Epilepsy (NS‐PME) is a progressive neurological disorder, initially only associated with the homozygous GOSR2 founder mutation (c.430G>T; p.Gly144Trp). Clinical symptoms include untreatable early‐onset ataxia, cortical myoclonus and epilepsy.
Sjoukje S. Polet, Elisabeth Z. Siegal, Sabine A. Fuchs, Marina A. J. Tijssen, Tom J. de Koning   +4 more
wiley   +1 more source

Risks of Plagiocephaly and Torticollis in Newborns

Pediatric Neurology Briefs, 2008
The incidence and characteristics of torticollis, plagiocephaly and facial asymmetry were evaluated prospectively by photographic analysis in 102 healthy newborn infants in a study at University of California, San Diego.
J Gordon Millichap
doaj   +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

Helmet Treatment of Infants With Deformational Brachycephaly

Global Pediatric Health, 2018
Deformation of the cranium in infancy represents a spectrum of deformity, ranging from severe asymmetric yet proportional distortion of the skull in plagiocephaly, to nearly symmetric yet disproportional distortion in brachycephaly.
Kevin M. Kelly PhD, Edward F. Joganic MD, FACS, Stephen P. Beals MD, FACS, FAAP, Jeff A. Riggs MA, Mary Kay McGuire OTR/L, Timothy R. Littlefield MS   +5 more
doaj   +1 more source

The fate of facial asymmetry after surgery for "muscular torticollis" in early childhood

Journal of Indian Association of Pediatric Surgeons, 2016
Aims and Objectives: To study wheather the facial features return to normal after surgery for muscular torticollis done in early childhood. Materials and Methods: This is a long-term study of the fate of facial asymmetry in four children who have ...
Dinesh Kittur
doaj   +1 more source