Results 61 to 70 of about 8,265 (200)

Effectiveness of Helmet therapy for infants with moderate to severe positional plagiocephaly [PDF]

Clinical and Experimental Pediatrics
Background The use of helmet treatment for positional plagiocephaly has increased recently; however, its effect is unknown in Korea. Purpose This study aimed to investigate the effectiveness of helmet therapy and identify its influencing factors. Methods
Jeongho Kim, Jina Kim, Kyu Young Chae
doaj   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of Degcags Syndrome: Novel Craniofacial and Oral Findings

Special Care in Dentistry, Volume 46, Issue 4, July/August 2026.
ABSTRACT Aims: Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS) syndrome (OMIM #619488) is a rare autosomal recessive disorder caused by pathogenic variants in ZNF699 and characterized by developmental delay and multisystem involvement.
Jeferson Paiva, Lucas Batista‐Fontes, Janaína Taíza Araújo de Jesus, Kelly Fernanda Molena, Raquel Assed Bezerra da Silva, Kranya Victoria Diaz‐Serrano, Francisco Wanderley Garcia de Paula‐Silva, Alexandra Mussolino de Queiroz, Fabrício Kitazono de Carvalho   +8 more
wiley   +1 more source

Controversies Surrounding Critical‐Size Defects: Influence of Age and Biological Characteristics

Journal of Biomedical Materials Research Part B: Applied Biomaterials, Volume 114, Issue 6, June 2026.
ABSTRACT Critical‐size defects (CSDs) in craniofacial reconstruction refer to osseous gaps that fail to heal spontaneously, increasing the risk of neurological impairment and craniofacial dysmorphology. Despite decades of investigation, controversy still exists surrounding the definition of CSDs, with criteria varying across species, experimental ...
Andrew Nordlund, Hana Shah, Nicholas A. Mirsky, Kashyap K. Tadisina, Arturo J. Rios‐Diaz, Vasudev Vivekanand Nayak, Estevam A. Bonfante, Paulo G. Coelho   +7 more
wiley   +1 more source

Plagiocephaly and head binding [PDF]

Archives of Disease in Childhood, 2002
Orthotic devices do not improve plagiocephaly The practice of head deformation by pressure to an infant's skull dates back to 2000 bc when the Ancient Egyptians used head binding to produce a cosmetically pleasing and fashionable skull shape.1 With an increasing incidence of plagiocephaly (asymmetric skull) this practice, with a modern slant, is re ...
S J, Bridges, T L, Chambers, I K, Pople
openaire   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 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 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

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, Volume 46, Issue 4, Page 581-588, April 2026.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source