Results 81 to 90 of about 879,135 (289)

Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de caso

Revista Médica Hondureña
Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder of neurodevelopment, its incidence is estimated around 1:25,000 live births.
Tatiana Martínez Lozano, Jessica Henríquez, Ascela Vásquez, Raxa Aguilar   +3 more
doaj   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Orofacial Proprioceptive Stimulation Therapy with a Palatal Memory Plate in a Baby with Down Syndrome – 2-year Follow-up Case Report

Contemporary Clinical Dentistry
Children with Down syndrome (DS) have oral manifestations, such as hypotonia of the perioral muscles, inadequate lip seal, and tongue posture changes, which affect the development of the stomatognathic system.
Fábia Ulisses Peixoto Esmeraldo, Natalia Victoria Del Carmen Guerra Trujillo, Sirannara Paulino Gomes Morbeck, Lívia Lima Xavier, Rebeca Bastos Vasconcelos Marinho, Isabella Fernandes Carvalho   +5 more
doaj   +1 more source

CORRELATION OF BIRTH WEIGHT, GESTATIONAL AGE AND MUSCLE TONE WITH MOTOR DEVELOPMENT OF PRETERM INFANTS

International Journal of Physiotherapy, 2018
Background: Muscle tone in Preterm infants (PTI) is lower actively and passively compared to full-term infants (FTI) due to reduced flexor muscle tone even at term age.
Pavani Vungarala, Rajeswari M
doaj   +1 more source

Image4_Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.TIF

, 2023
Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Sarah Jesse (120792), Berra Yildiz (16935795), Tobias M. Boeckers (6829862), Anne-Kathrin Lutz (11758967), Lisa Schiedt (16935798), Jürgen Bockmann (522341), Medhanie Mulaw (5944241)   +6 more
core   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Congenital Myopathy of Neonatal Onset - A Case Report

Pakistan Journal of Medicine and Dentistry
Congenital myopathies (CMs) are a diverse group of rare inherited muscle disorders characterized by muscle weakness and hypotonia. Very few studies have outlined the cases of CM in Pakistani immigrant families.
Fatima Jehangir, Rabia Faisal, Arwa Giani, Zainab Aziz   +3 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source