Results 71 to 80 of about 2,909 (206)

Posterior positional plagiocephaly treated with cranial remodeling orthosis. [PDF]

, 2007
Since the recommendation that infants sleep in the supine position, there has been an increase in cases of posterior positional plagiocephaly.
Cavin, B., de Ribaupierre, S., Kalina, D., Leyvraz, P-, Rilliet, B., Vernet, O.   +5 more
core  

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Botulinum Toxin Type A for Pediatric Torticollis: A Review of Clinical Research

Toxins
Pediatric torticollis, predominantly resulting from congenital muscular torticollis, is characterized by unilateral shortening of the sternocleidomastoid muscle, leading to head tilt and limited cervical mobility.
Na-Yoen Kwon, Soo-Hyun Sung, Hyun-Kyung Sung   +2 more
doaj   +1 more source

Maintaining ‘V-Contour’ of the Neck after Surgery for Neglected Congenital Muscular Torticollis in an Adult (A New Technique) [PDF]

Journal of Clinical and Diagnostic Research, 2018
In Congenital Muscular Torticollis (CMT), also called twisted neck or wryneck, an individual holds his or her head tilted to one side. There is a little consensus on the treatment approach of neglected CMT after skeletal maturity in adults.
Osama Neyaz, Abhimanyu Vasudeva, S L Yadav   +2 more
doaj   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Management and Outcomes of Postoperative Airway Obstruction in Patients After Tissue‐Augmentation Palatoplasty

Otolaryngology–Head and Neck Surgery, Volume 173, Issue 4, Page 1007-1013, October 2025.
Abstract Objective To characterize postoperative airway obstruction and evaluate management strategies in pediatric patients with cleft palate following tissue‐augmentation palatoplasty (TAP). Study Design Retrospective case series. Setting Single academic center. Methods Patients with obstruction within 1 year of primary TAP between 2017 and 2023 were
Pooja D. Reddy, Soukaina Eljamri, Amber D. Shaffer, Matthew Ford, Rachel Whelan, Allison Tobey, Noel Jabbour   +6 more
wiley   +1 more source

Neuropathology and diagnostics in food animals [PDF]

, 2012
Diseases of the central nervous system are relatively common in food animals. Potential causes include infectious agents, nutritional deficiencies, metabolic disorders, genetic defects, toxins, and idiopathic causes. Food animals are frequently raised in
Nietfeld, Jerome C.
core   +1 more source

Kawasaki Disease Presenting Uncommonly with Torticollis: A Case Report

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Kawasaki disease (KD) is an acute, febrile, systemic inflammatory disorder affecting children. A subset of KD patients, often infants or older children, does not meet the classic diagnostic criteria. In such cases, delayed recognition of atypical or incomplete KD can increase the risk of coronary artery complications.
Hassan Mottaghi Moghaddam Shahri, Faeze Keihanian, Mohammad Hassan Nezafati, Mohammad Saeid Sasan   +3 more
wiley   +1 more source

Medical treatment of dystonia [PDF]

, 2016
Therapeutic strategies in dystonia have evolved considerably in the past few decades. Three major treatment modalities include oral medications, botulinum toxin injections and surgical therapies, particularly deep brain stimulation.
Pichet Termsarasab, Steven J. Frucht, Thananan Thammongkolchai   +2 more
core   +2 more sources