Results 61 to 70 of about 2,876 (205)

Pengaruh Pemberian Massage dan Stretching Terhadap Congenital Muscular Torticollis pada Bayi : Narrative Review [PDF]

, 2021
Latar belakang: Congenital Muscular Torticollis (CMT) dapat didefinisikan deformitas bawaan lahir dengan karakteristik kemiringan lateral ke arah bahu, dengan torsi pada leher dan deviasi pada wajah. Penyebab terjadi nya congenital muscular torticollis
Andry Ariyanto, SST.Ft., M.OR, Luluk Rosida, S.ST., M.KM, Triyanto Cahyo Saputro, 1710301066   +2 more
core  

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Purpose To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder. Observation A 4‐month‐old female presented with subtle, roving eyes that were initially attributed to normal development.
Janan Niknam, Arpineh Petrosyan, Victoria Agustin, Amanda Shoubaki, Kaylita Chantiluke   +4 more
wiley   +1 more source

Eficacia da fisioterapia no cabaleiro muscular conxénito [PDF]

, 2016
[Resumen] Introducción. La tortícolis muscular congénita es la tercera patología pediátrica más frecuente. Es una deformidad que se detecta al nacer o poco después del nacimiento. Se caracteriza por la inclinación de la cabeza hacia un lado y la rotación
Carregal Aller, Candela
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

Congenital Muscular Torticollis: A Case Report

Philippine Journal of Otolaryngology Head and Neck Surgery, 2019
Objective: To discuss a case of congenital muscular torticollis and its presentation, pathophysiology and management.  Methods:                     Design: Case Report                     Setting: Tertiary Private Hospital                    
Leila Marie Villanueva
doaj  

Out of the spasticity box: Off-label uses of botulinum toxin in children

Journal of Pediatric Rehabilitation Medicine, 2020
Botulinum toxin is frequently used as a therapeutic for a variety of non-FDA approved indications in children. This narrative literature review explores three off-label uses of botulinum toxin in pediatric conditions including congenital muscular ...
Joyce L. Oleszek, Amy S. Kanallakan, Aaron J. Powell   +2 more
doaj   +1 more source

Schmallenberg virus: emergence of an Orthobunyavirus among ruminants in Western Europe [PDF]

, 2012
Recently, a novel virus has been identified among ruminants in Western Europe. This virus, the so-called Schmallenberg virus, belongs to the family Bunyaviridae, genus Orthobunyavirus, serogroup Simbu and is closely related to Akabane, Aino and Shamonda ...
Bertels, Guido, Cay, Ann Brigitte, Nauwynck, Hans, Steukers, Lennert   +3 more
core  

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

Clinical factors in patients with congenital muscular torticollis treated with surgical resection

Archives of Plastic Surgery, 2019
Background Congenital muscular torticollis (CMT) is characterized by persistent head tilt toward the affected side. No consensus exists regarding the cause of this disorder. In this study, we analyzed various clinical factors in patients with
Sue Min Kim, Bohwan Cha, Kwang Sik Jeong, Non Hyeon Ha, Myong Chul Park   +4 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