Results 71 to 80 of about 1,837 (195)

Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography Anomalias de sistema nervoso central em defeitos de linha média facial com hipertelorismo detectados por ressonância magnética e tomografia computadorizada

Arquivos de Neuro-Psiquiatria, 2006
The aim of this study were to describe and to compare structural central nervous system (CNS) anomalies detected by magnetic resonance image (MRI) and computed tomography (CT) in individuals affected by midline facial defects with hypertelorism (MFDH ...
Vera Lúcia Gil-da-Silva-Lopes, Silvio David Araújo Giffoni   +1 more
doaj   +1 more source

Updated EUROCAT guidelines for classification of cases with congenital anomalies

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman, Annie Perraud, Ingeborg Barišić, Agnieszka Kinsner‐Ovaskainen, Joan K. Morris, David Tucker, Diana Wellesley, Ester Garne   +7 more
wiley   +1 more source

Disostosis frontonasal acromélica (variante rara de displasia frontonasal)

Iatreia, 2010
Introducción: la Disostosis frontonasal acromélica (DFNA) es un subtipo poco frecuente de Displasia Frontonasal(DFN) de causa desconocida. Se sugiere herencia autosómica dominante. Los pacientes descritos presentan malformaciones frontonasales asociado a
Adriana Isabel Iglesias González, Adriana Del Pilar Pinzón Espinosa, Harvy Mauricio Velasco   +2 more
doaj  

First and second branchial arch syndromes: multimodality approach [PDF]

, 2018
First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches.
Gudinchet, François, Jaques, Bertrand, Laswed, Tarek, Maestre, Leonor, Meuli, Reto, Meuwly, Jean-Yves, Senggen, Elodie   +6 more
core  

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe [PDF]

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly.
Addor, Marie-Claude, Barisic, Ingeborg, Bergman, Jorieke Eh, Boban, Ljubica, Braz, Paula, Calzolari, Elisa, Dolk, Helen, Draper, Elizabeth S, Garne, Ester, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Loane, Maria, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Rinke, Verellen-Dumoulin, Christine, Wellesley, Diana   +18 more
core   +1 more source

Prevalence of craniosynostosis in Finland, 1987–2010: A population‐based study

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population‐based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.
Pia Vuola, Niklas Pakkasjärvi, Annukka Ritvanen, Arja Heliövaara, Erkki Tukiainen, Mika Gissler   +5 more
wiley   +1 more source

Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review

BMC Pregnancy and Childbirth
Background Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic.
Cuixia Guo, Tiejuan Zhang, Ying Ma, Song Yue, Lijuan Sun   +4 more
doaj   +1 more source

Estudio comparativo de la eficacia en el diagnóstico sagital de la clase esqueletal entre el ángulo w y el ángulo ANB en pacientes chilenos de 9 a 15 años del postgrado de ortodoncia Unab sede Santiago [PDF]

, 2017
Tesis (Cirujano Dentista)La finalidad de este estudio de tipo analítico transversal, es comparar la eficacia diagnostica del Angulo W para determinar la clase esqueletal con respecto al Ángulo ANB (Gold Standard).
Israel Araya, Katia, Olivares Campillay, Paulina   +1 more
core  

Frontonasal dysplasia in 3H1 Br/Br mice [PDF]

The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology, 2003
AbstractThe adult Brachyrrhine (3H1 Br/+) mouse displays severe midfacial retrognathia, with a “pugnose” external appearance, but information concerning craniofacial morphology of the homozygote (3H1 Br/Br) mutant is lacking. This study characterized craniofacial phenotype and genotypic features of the homozygous condition.
Brandeis M, McBratney, Edith, Margaryan, Wenbin, Ma, Zsolt, Urban, Scott, Lozanoff   +4 more
openaire   +2 more sources

Intracranial intricacies: Comprehensive analysis of rare skull base meningiomas—A single‐center case series

Clinical Case Reports, Volume 12, Issue 1, January 2024.
CT Scan showing well‐defined extra‐axial mass lesion with perilesional edema and midline shift in left frontal lobe. Key Clinical Message This study paper's main goal is to report rare cases of skull base meningiomas that exemplify the complexities of diagnosis, therapy, and postoperative care.
Abdullah Nadeem, Afsheen Khan, Ashna Habib, Rabeea Tariq, Areeba Ahsan, Areeba Aamir Ali Basaria, Nahid Raufi, Abir Chughtai   +7 more
wiley   +1 more source