Results 91 to 100 of about 1,473 (227)
Clinical 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
Revista Brasileira de Pesquisa em Saúde/Brazilian Journal of Health ResearchIntrodução: As anomalias congênitas do trato intestinal baixo são importantes causas de morbidade em neonatos, cursando inicialmente com quadro clínico e radiográfico que sugere obstrução intestinal. A síndrome do colón curto congênito, a atresia cólica e a Doença de Hirschsprung, possuem mais relatos descritos, enquanto a agenesia do cólon é mais rara,
Anna Júlia Del Piero Marques Gomes +3 more
openaire +1 more source
Developmental 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
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia
Developmental 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
Síndrome de las bandas amnióticas estudio anatomopatológico genético y por imagen de un caso
Acta Biológica Colombiana, 2001 El presente trabajo tiene por objeto, caracterizar un posible caso del Síndrome de bandasamnióticas mediante un estudio Anatomopatológico, Genético y por imagen.
LA. Casomurillo +5 more
doaj
Dental 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
International 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
Secuencia de displasia caudal: Estudio clínico y radiológico de un paciente
Salud Uninorte, 2012 La secuencia de displasia caudal (SDC), denominada también síndrome de regresión caudal y síndrome de agenesia sacra, es una malformación congénita poco frecuente, que incluye principalmente agenesia con extensión variable de cuerpos vertebrales distales
Andrés Arévalo Hernández +6 more
doaj
Diachronic Trends in Dental Hygiene Over the Last 2000 Years in Milan, Italy: An Exploratory Study
International Journal of Dental Hygiene, EarlyView.ABSTRACT Background Oral health is a multi‐factorial condition influenced by diet, hygiene and sociocultural habits and its historical evolution can be traced through the bioarchaeological analysis of dento‐skeletal remains, offering unique insights into past lifestyles and public health trends.
Lucie Biehler‐Gomez +9 more
wiley +1 more source