Results 111 to 120 of about 31,520 (324)

Muscle histopathology in nebulin-related nemaline myopathy : ultrastrastructural findings correlated to disease severity and genotype [PDF]

, 2014
Peer ...
Bellance, Remi, Böhm, Johann, De Winter, Josine M., Estournet, Brigitte, Eymard, Bruno, Fardeau, Michel, Laporte, Jocelyn, Lehtokari, Vilma-Lotta, Lubieniecki, Fabiana, Madelaine, Angéline, Malfatti, Edoardo, Monges, Soledad, Ottenheijm, Coen AC, Pelin, Katarina, Quijano-Roy, Susana, Romero, Norma B., Schäffer, Ursula, Taratuto, Ana Lía, Viou, Mai Thao, Wallgren-Pettersson, Carina, Wu, Bin   +20 more
core   +4 more sources

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. [PDF]

, 2018
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension.
Campo, Miguel Del, Chowdhury, Shimul, Dimmock, David P, Jones, Marilyn C, Kingsmore, Stephen F, Nahas, Shareef A, RCIGM Investigators, Sweeney, Nathaly M   +7 more
core   +2 more sources

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Causes &clinical presentation of hypotonia in children

مجلة كلية الطب, 2010
Background: Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle ...
Mahjoob N. AL-Naddawi, Russul F. Mussa, Khawla M. kamel   +2 more
doaj   +1 more source

Clinical and polysomnographic course of childhood narcolepsy with cataplexy. [PDF]

, 2013
Our aim was to investigate the natural evolution of cataplexy and polysomnographic features in untreated children with narcolepsy with cataplexy. To this end, clinical, polysomnographic, and cataplexy-video assessments were performed at diagnosis (mean ...
American Academy of Sleep Medicine, Aran, Aran, Broughton, Cacciari, Christian Franceschini, Cvetkovic-Lopes, Dale, Dauvilliers, Dauvilliers, Elena Finotti, Emmanuel Mignot, Fabio Pizza, Faraco, Francesca Ingravallo, Giuseppe Plazzi, Guilleminault, Hallmayer, Han, Hanna Peltola, Hor, Kailash P. Bhatia, Kawashima, Kornum, Kornum, Kotagal, Lecendreux, Ling Lin, Lino Nobili, Luca, Ludvikova, Mark J. Edwards, Markku Partinen, Mascaro, Mignot, Mignot, Murali, Ohayon, Oliviero Bruni, Overeem, Partinen, Plazzi, Poli, Poli, Ponz, Rubboli, Schreyer, Schwartz, Serra, Stefano Vandi, Sundvik, Tafti, Vendrame, Vetrugno, Vignatelli, von Herrath, Wingerchuk, Yamuy, Yves Dauvilliers   +58 more
core   +2 more sources

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Congenital Myopathy of Neonatal Onset - A Case Report

Pakistan Journal of Medicine and Dentistry
Congenital myopathies (CMs) are a diverse group of rare inherited muscle disorders characterized by muscle weakness and hypotonia. Very few studies have outlined the cases of CM in Pakistani immigrant families.
Fatima Jehangir, Rabia Faisal, Arwa Giani, Zainab Aziz   +3 more
doaj   +1 more source

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients [PDF]

, 2014
Background: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the
Ahting, Uwe, Atiq, Mehnaz, Bashir, Rani A, Chinnery, Patrick F, Dworschak, Andrea, Feichtinger, René G, Haack, Tobias B, Haghighi, Alireza, Haghighi-Kakhki, Hamidreza, Holzerova, Eliska, Klopstock, Thomas, Lebre, Anne-Sophie, Mayr, Johannes A, Mottaghi, Hassan, Prokisch, Holger, Pulido, Nathan, Rötig, Agnès, Saeed, Mahmood A, Saleh-Gohari, Nasrollah, Taylor, Robert W   +19 more
core   +2 more sources