Results 51 to 60 of about 4,131 (223)

A Novel De Novo Ddx3x Missense Variant in a Female With Brachycephaly and Intellectual Disability: A Case Report [PDF]

Italian Journal of Pediatrics, 2020
Background De novo pathogenic variants in the DDX3X gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958).
Giada Moresco, Jole Costanza, Carlo Santaniello, Ornella Rondinone, Federico Grilli, Elisabetta Prada, Simona Orcesi, Ilaria Coro, Paola Marchisio, Monica Miozzo, Laura Fontana, Donatella Milani   +11 more
openalex   +2 more sources

Gestational echobiometry in brachycephalic bitches using high-definition ultrasonography

Pesquisa Veterinária Brasileira, 2021
: The objective of the present study was to obtain echobiometric values for the most important canine maternal-fetal tissues using high-definition ultrasonography (HDUS) trying to update the formulas for predicting gestational age. Twelve healthy bitches
Marjury C. Maronezi, Ana Paula R. Simões, Ricardo A.R. Uscategui, Letícia Pavan, Mariana G.K. Rodrigues, Renata S.G. Mariano, Victor J.C. Santos, Marcus A.R. Feliciano   +7 more
doaj   +1 more source

Thrombocytosis in brachycephalic dogs with brachycephalic obstructive airway syndrome

Veterinární Medicína, 2023
Brachycephalic dogs are prone to a conformation-related respiratory disorder known as brachycephalic obstructive airway syndrome (BOAS). Due to its systemic consequences, BOAS should be considered a systemic disease.
V Erjavec, A Nemec Svete
doaj   +1 more source

Dynamic Susceptibility Contrast Perfusion Magnetic Resonance Imaging Demonstrates Reduced Periventricular Cerebral Blood Flow in Dogs with Ventriculomegaly

Frontiers in Veterinary Science, 2017
The nature of ventriculomegaly in dogs is still a matter of debate. Signs of increased intraventricular pressure and atrophy of the cerebral white matter have been found in dogs with ventriculomegaly, which would imply increased intraventricular pressure
Martin J. Schmidt, Malgorzata Kolecka, Robert Kirberger, Antje Hartmann   +3 more
doaj   +1 more source

Developmental anomalies in the smooth snake, Coronella austriaca Laurenti, 1768 (Squamata, Colubridae) from Poland [PDF]

Herpetozoa, 2022
We present four cases of rare developmental anomalies in the smooth snake Coronella austriaca Laurenti, 1768 from western Poland. These include brachycephaly, lordosis, a supernumerary row of ‘ventral’ scales, and the third reported case of dicephalism ...
Bartłomiej Najbar, Anna Najbar, Grzegorz Sapikowski, Krzysztof Kolenda, Tomasz Skawiński   +4 more
doaj   +3 more sources

Development and Validation of a Prediction Model for the Treatment Time of Deformational Head Shapes Using a Cranial Remolding Orthosis

Children, 2022
The cranial remolding orthosis (CRO) has been shown in previous studies to be an effective method of treatment for deformational head shapes. Many studies have shown younger infants achieve greater correction than older infants and generally have a ...
Tiffany Graham, Jijia Wang
doaj   +1 more source

Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel. [PDF]

PLoS ONE, 2017
To characterise the symptomatic phenotype of Chiari-like malformation (CM), secondary syringomyelia (SM) and brachycephaly in the Cavalier King Charles Spaniel using morphometric measurements on mid-sagittal Magnetic Resonance images (MRI) of the brain ...
Susan P Knowler, Chloe Cross, Sandra Griffiths, Angus K McFadyen, Jelena Jovanovik, Anna Tauro, Zoha Kibar, Colin J Driver, Roberto M La Ragione, Clare Rusbridge   +9 more
doaj   +1 more source

Using machine learning to understand neuromorphological change and image‐based biomarker identification in Cavalier King Charles Spaniels with Chiari‐like malformation‐associated pain and syringomyelia

Journal of Veterinary Internal Medicine, 2019
Background Chiari‐like malformation (CM) is a complex malformation of the skull and cranial cervical vertebrae that potentially results in pain and secondary syringomyelia (SM).
Michaela Spiteri, Susan P. Knowler, Clare Rusbridge, Kevin Wells   +3 more
doaj   +1 more source

An unusual complication after craniofacial surgery for Apert syndrome

Medical Journal of Dr. D.Y. Patil University, 2014
Apert syndrome is a rare genetic disorder, characterized by premature fusion of skull sutures, mid-face hypoplasia and syndactyly of the hands and feet. It is inherited as autosomal dominant or sporadic and is associated with increased paternal age.
Abhay A Lune, Bharat B Dogra, Sonali A Lune   +2 more
doaj   +1 more source

Interrater and Intrarater Reliability of Cranial Anthropometric Measurements in Infants with Positional Plagiocephaly

Children, 2020
(1) Background: anthropometric measurements with calipers are used to objectify cranial asymmetry in positional plagiocephaly but there is controversy regarding the reliability of different methodologies. Purpose: to analyze the interrater and intrarater
Iñaki Pastor-Pons, María Orosia Lucha-López, Marta Barrau-Lalmolda, Iñaki Rodes-Pastor, Ángel Luis Rodríguez-Fernández, César Hidalgo-García, Jose Miguel Tricás-Moreno   +6 more
doaj   +1 more source