Results 111 to 120 of about 54,673 (271)

Dens agenesis and cervical vertebral malformation in a Labrador Retriever puppy

open access: yes, 2014
Elisa N Salas,1 Henry E Cerny,2 Seth P Harris1 1Institute of Agriculture and Natural Resources, School of Veterinary Medicine and Biomedical Sciences, University of Nebraska–Lincoln, Lincoln, NE, USA; 2Yankee Hill Veterinary Hospital, Lincoln, NE ...
Cerny HE, Harris SP, Salas EN
core  

Appendicular agenesis: a case report

open access: yes, 2018
Congenital agenesis or absence of vermiform appendix is very rare. Herein, author reported a case of a 28 years old Vietnamese lady who presented with a picture of acute appendicitis. During surgery, author failed to find the appendix.
Alaa Sedik   +2 more
core   +1 more source

Novel PAX9 Stop Mutation Associated With Selective Tooth Agenesis and Variable Expressivity in an Austrian‐Hungarian Family

open access: yesClinical Genetics, EarlyView.
Here, we describe a novel heterozygous PAX9 stop mutation (c.576G>A; p.Trp192*) causing selective tooth agenesis in a family with three affected members across two generations. Phenotypes show marked intrafamilial variability, including oligodontia with anterior tooth involvement, shape abnormalities, and deciduous dentition disruption.
Katharina Sillaber   +4 more
wiley   +1 more source

Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

open access: yes, 2017
Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis.
Elkhamary, Sahar M.   +8 more
core   +1 more source

Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey   +3 more
wiley   +1 more source

Unilateral Renal Agenesis and the Awareness of Mostyn Embrey Syndrome

open access: yes, 2017
Al-Mosawi AJ. Unilateral Renal Agenesis and the Awareness of Mostyn Embrey Syndrome. Journal of Renal Medicine 2017; 1(1):1-4. Published: March 21, 2017.
Al-Mosawi,Aamir
core   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Traumatic Dental Injuries as a Potential Predisposing Factor for Invasive Cervical Resorption: A Systematic Review

open access: yesDental Traumatology, EarlyView.
ABSTRACT Invasive cervical resorption is a clinically challenging and often silent form of external root resorption that may remain undetected until substantial structural damage has occurred. Although traumatic dental injuries are repeatedly cited as potential predisposing factors, the strength, consistency, and clinical meaning of this association ...
Thiago Farias Rocha Lima   +5 more
wiley   +1 more source

Symptomatic Internal Carotid Agenesis in Children

open access: yes, 2020
Carotid artery agenesis is a rare congenital anomaly, and there are controversies in the leading cause for it. We present a 6-year-old girl with resolved focal neurological ischemic stroke that showed bilateral internal carotid artery (ICA) agenesis ...
Musaed Alghamdi   +4 more
core   +1 more source

Functional Independence Related to Oral Hygiene and Periodontal Status in Patients With Down Syndrome

open access: yesInternational Journal of Dental Hygiene, EarlyView.
ABSTRACT Objectives This study aimed to investigate the relationship between functional independence, oral hygiene habits and periodontal status in patients with Down syndrome (DS). Methods A cross‐sectional observational study was conducted with 49 patients with Down Syndrome. Sociodemographic data, oral hygiene habits and functional independence were
Joana Albuquerque Bastos de Sousa   +6 more
wiley   +1 more source

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