Results 31 to 40 of about 3,111 (261)

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Agenesia de incisivos laterais superiores: opções de tratamento - revisão de literatura [PDF]

, 2012
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.Foram revisadas na literatura as principais opções de tratamento para a agenesia de incisivos laterais superiores permanentes com o objetivo de oferecer ao
Schmidt, Luiza Woeltje
core  

Holoprosencephaly with agenesia of the prosencephalic ventricle [PDF]

Folia Neuropathologica, 2015
Malformations of the forebrain are characterized by abnormalities in size, shape, and arrangement of the cerebral hemispheres and ventricles. We present the morphological picture of a brain with failure of the forebrain complementary to holoprosencephaly coexisting with absence of the anterodorsal part of the prosencephalic ventricles.
Laure-Kamionowska, M, Krystyna Zofia Szymańska, Klepacka, T   +2 more
openaire   +2 more sources

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Agenesia Dentária: Revisão de Literatura [PDF]

, 2014
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A agenesia dentária consiste na redução numérica dos elementos dentários e é considerada uma das anomalias dentais mais frequentes no ser humano, sendo ...
Ribas, Agata
core  

First Case Report of Agnathia-Otocephaly Complex Reported in Niger. [PDF]

Clin Case Rep
ABSTRACT Agnathia–otocephaly complex (AOC) is an extremely rare congenital malformation resulting from a disorder of the first branchial arch. In the past, this condition was considered lethal. However, milder variants of the isolated type of AOC have been reported as non‐lethal.
Diaouga HS, Dogbe YZKO, Garba RM, Nayama M.   +3 more
europepmc   +2 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Total agenesis of the corpus callosum in a patient with childhood-onset schizophrenia Agenesia completa de corpo caloso em um paciente com esquizofrenia de início na infância

Arquivos de Neuro-Psiquiatria, 2007
The hypothesis that schizophrenia involves aberrant inter-hemispheric communication has a long pedigree, however its precise role remains unclear. We therefore report the case of a total agenesis of the corpus callosum in a 21-year-old man with childhood-
Jaime Eduardo Cecilio Hallak, José Alexandre de Sousa Crippa, Joel Porfírio Pinto, João Paulo Machado de Sousa, Clarissa Trzesniak, Serdar Murat Dursun, Phillip McGuire, John Francis William Deakin, Antonio Waldo Zuardi   +8 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Agenesia de artéria pulmonar direita

Medicina, 2020
A agenesia de artéria pulmonar é uma malformação congênita rara, que ocorre devido ao não desenvolvimento do sexto arco aórtico. Entretanto, não é relacionada com malformações cardíacas.
Ingred Stephany Domingues da Silva, Eugênio Fernandes de Magalhães, Letícia Carolina Malaquias Pereira, Luiza de Castro Cançado Braga, Victor Zenatti Femía, Cairo Barcelos Alves Serrano, Ana Luíza Rezende Collani, Paula Vieira Penha   +7 more
doaj   +1 more source