Results 61 to 70 of about 9,047 (211)

Deformational Plagiocephaly: A Case Report [PDF]

, 2010
Plagiocefalija je izraz kojim se obično opisuju kongenitalne asimetrije čela. Frontalnu plagiocefaliju ima oko pet posto pacijenata, uglavnom muške djece s predominacijom desnostranih jednostranih slučajeva.
Alessandro Leite CAVALCANTI, Ana Flávia GRANVILLE-GARCIA, Dmitry Jose de SANTANA SARMENTO, Luiz Guedes de CARVALHO NETO, Wellington Torres de ANDRADE   +4 more
core   +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

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

Cranioplasty with Methylmethacrylate in Plagiocephaly [PDF]

Archives of Craniofacial Surgery, 2016
Copyright © 2016 The Korean Cleft Palate-Craniofacial Association This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work ...
Hwang, So-Min, Chu, Sung-Chul, Kim, Hyung-Do, Hwang, Min-Kyu, Kim, Min-Wook, Lee, Jong-Seo   +5 more
openaire   +2 more sources

Is cranial molding preventable in preterm infants? A systematic literature review of the effectiveness of interventions [PDF]

, 2011
Aims: A systematic review of published studies was conducted to study the evidence supporting interventions to prevent or reduce cranial molding of the preterm infant in Neonatal Intensive Care Units.
Helder MScN, K. (Onno), Hoogen, A. (Agnes) van den, Mansvelt, P. (Petri), Wielenga, J.M. (Joke)   +3 more
core  

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

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

Deformidades craneales consecuencias en el desarrollo [PDF]

, 2012
A partir de la campaña de prevención de la muerte súbita en los lactantes, han aumentado los casos documentados de deformidades craneales, sin una etiología clara y con unas consecuencias por determinar.
González Bernal, Jerónimo, González Santos, Josefa   +1 more
core  

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