Results 71 to 80 of about 7,645 (206)

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

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

Clinical Genetics, Volume 109, Issue 1, Page 167-175, January 2026.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert McFarland, Robert W. Taylor   +20 more
wiley   +1 more source

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by macrosomia, nephromegaly, renal dysplasia, and characteristic facial features. It has both similarities and differences to other more common overgrowth syndromes. Pathogenic homozygosity is extremely rare in nonconsanguineous relationships.
Esther Levy, Leighton Elliott, Michal A. Miller, Mackenzie Kramer, Balraj Mittal   +4 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Frontal-orbital advancement for the management of anterior plagiocephaly

, 2013
The main purposes of this manuscript are to provide an overview of various modalities of surgical correction of anterior plagiocephaly and to emphasize their differences with the classic open frontal-orbital advancement.
Cardeal, Daniel Dante, de Andrade, Fernanda, Matushita, Hamilton, Alonso, Nivaldo   +3 more
core   +1 more source

Correction of maxillofacial deformities in a patient with unilateral coronal craniosynostosis (plagiocephaly): a case report and a review of literatures.

Frontiers in Dentistry, 2013
Plagiocephaly (oblique skull) is premature fusion of one of the coronal sutures. Frontal plagiocephaly is a rare congenital deformity in the skull that is the most complicated form of craniosynostosis to treat. Examination of all sutures is necessary for
Mansour Khorasani, Mohsen Hasani Barzi, Bahman Derakhshan   +2 more
doaj  

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

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, Volume 108, Issue 6, Page 731-741, December 2025.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +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

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