Results 61 to 70 of about 309,057 (256)

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +8 more
wiley   +1 more source

Obsessive-Compulsive Disorder and Chiari Malformation: a Case Report

Medicine Science, 2016
Obsessive compulsive disorder is a common psychiatric disorder that severely disrupts functionality due to obsessions and compulsions. An attempt has previously been made to explain the disorder with the psychoanalytic theory and fixation to the anal ...
Esra Porgali Zayman, Mehmet Fatih Erbay
doaj   +1 more source

Intermittent and Unilateral Chorioretinal Folds due to Combined Chiari 1 Malformation and Basilar Invagination

Case Reports in Ophthalmology, 2022
We report the case of a 35-year-old female with combined Chiari 1 malformation and basilar invagination, who presented with intermittent conjunctival chemosis and unilateral chorioretinal folds that were temporally correlated.
Alemu Kerie Tesfaw, Nikhil N. Batra, Cong T. Phan, Workayehu Kebede Woldegiorgis, Mulusew Asferaw Melesse   +4 more
doaj   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic–Pituitary Lesions and Incidental Findings in Real‐World Practice

Clinical Endocrinology, EarlyView.
ABSTRACT Background Brain MRI is widely performed in children with short stature or suspected growth hormone deficiency(GHD) to exclude hypothalamic–pituitary (HP) pathology, yet its diagnostic yield in routine practice is uncertain. We aimed to evaluate the prevalence, clinical significance, and distribution of HP and extrahypothalamic abnormalities ...
Mustafa Zubeidat, Tamer Sobeh, Shai Shrot   +2 more
wiley   +1 more source

Headache in Children With Chiari I Malformation

, 2014
Background Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum.
GATTA, MICHELA, BATTISTELLA, PIER ANTONIO, Rodica Mardari, Marta Tangari, PERISSINOTTO, EGLE, Stefano Sartori, Milena Calderone, TOLDO, IRENE   +7 more
core   +1 more source

The Chiari-I malformation.

, 1991
We have described the important clinical features and aspects of the Chiari-I malformations, with particular emphasis on Chiari-I malformation. Previously thought to be a rare finding with only minor significance, Chiari-I malformation is an important ...
Hendrix, R A, Sclafani, A P, DeDio, Robert M, MD   +2 more
core   +1 more source

Anestesia pada Tindakan Dekompresi Foramen Magnum pada Pasien dengan Malformasi Arnold Chiari

Jurnal Neuroanestesi Indonesia, 2013
Malformasi Arnold Chiari tipe 1 adalah pergeseran tonsil serebellum kearah kaudal kanalis spinalis tulang belakang servikal melalui foramen magnum. Siringomielia adalah gangguan degeneratif progresif yang ditandai dengan amiotropi brakhial dan kehilangan
Nazaruddin Umar, Haryo Prabowo, Tasrif Hamdi   +2 more
doaj   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source