Results 61 to 70 of about 67,922 (183)

Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes, Maria Pilar Mendez Perez, Marta Torres Diaz, Maria Eugenia Sanchez Gutierrez, Enrique Galán Gómez   +4 more
wiley   +1 more source

Hereditary Motor and Sensory Neuropathy (HMSN)

Pediatric Neurology Briefs, 1987
Thirteen affected males and 25 obligate or probable heterozygous females with X-linked HMSN are reported from the Depts Neurology and Pathology, Duke Univ Med Centr, Durham, NC and Dept Neurology, Univ of Pennsylvania, Philadelphia, PA.
J Gordon Millichap
doaj   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1320-1334, July 2026.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

A Comparison of Arch Index, Foot Posture Index and Surgeon Observation for Foot Type Classification

Foot & Ankle Orthopaedics, 2020
Category: Basic Sciences/Biologics Introduction/Purpose: Foot morphology is a key aspect of patient evaluation. Individuals with Pes planus usually have medial foot pain; those with Pes Cavus commonly have pain over lateral foot. Foot Posture Index (FPI)
Dukens LaBaze BS, Alexandra Gabrielli MD, MS, William Anderst PhD, MaCalus V. Hogan MD   +3 more
doaj   +1 more source

Does medial longitudinal arch morphometrics affect the formation of pes planus or pes cavus in patients with epin calcanei (heel spur)?

, 2023
Epin calcanei, calcaneus'taki kemik çıkıntılar olarak tanımlanır. Calcaneal çıkıntılar, plantar fasiit'e bağlı topuk ağrısı ile ilişkilendirilir. Plantar fasiit, calcaneus çevresinde tekrarlayan travmalar nedeniyle ortaya çıkan, plantar fascia'nın ...
Cingöz, Gözde
core  

Lelievre's tarsometatarsectomy in treatment of pes cavus

, 1982
Hemos podido controlar en nuestro Servicio 22 pies cavos correspondientes a quince pacientes tratados mediante la técnica de la tarsometatarsectomía de Lelievre.
Garcés Martín, Gerardo, Navarrete Gil, F., García Marcos, M. E., Jiménez Díaz, Juan Fernando   +3 more
core  

Are in-shoe pressure characteristics in symptomatic idiopathic pes cavus related to the location of foot pain?

, 2008
People who have extremely high arched feet may be subject to substantial levels of foot pain, despite the lack of obvious pathology. This study sought to investigate the effect of pes cavus on pain intensity and location and on the magnitude and ...
Crosbie, Jack (R17347), Burns, Joshua (R10995)   +1 more
core   +1 more source

Removal of the navicular bone with wedge osteotomy of the cuboid bone as a method of surgical treatment of cavus foot. Clinical case

Вестник медицинского института «Реавиз»: Реабилитация, врач и здоровье
Relevance. Midfoot osteotomies are common surgical treatment option for the pes cavus in the presence of a deformity apex in the area of the Chopard joint.
V. S. Apresyan, L. G. Makinyan, A. M. Mannanov, Ch. K. Moldamyrzaev, D. A. Samkovich   +4 more
doaj   +1 more source

Peripheral Neuropathy in Krabbe’s Disease

Pediatric Neurology Briefs, 1997
A 13-year-old female child presenting with scoliosis, pes cavus, distal lower extremity weakness, sensory loss, and delayed nerve conduction velocities, initially diagnosed as Charcot-Marie-Tooth disease, later developed lower extremity spasticity and ...
J Gordon Millichap
doaj   +1 more source