Results 31 to 40 of about 2,630 (159)

Safe performance of spinal anesthesia in a critical patient with neurofibromatosis, pectus carinatum, and temporomandibular joint dysfunction: A case report

Patient Safety in Surgery, 2010
Background Neurofibromatosis is a syndrome caused by the abnormal deposition of neural tissues of the nervous system, endocrine system, visceral structures, and skin.
Zencirci Beyazit
doaj   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

PECTUS CARINATUM DEVELOPMENT AFTER THE NUSS PROCEDURE: A CASE REPORT

Turkish Medical Student Journal
Development of pectus carinatum is a very rare complication of the Nuss procedure. This complication may lead to early bar removal, which hinders sternal protrusion but induces the recurrence of pectus excavatum.
Zafer Alparslan, Mustafa Yüksel
doaj   +1 more source

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

Prevalência de pectus carinatum e pectus excavatum em escolares de Manaus Prevalence of pectus carinatum and pectus excavatum in students in the city of Manaus, Brazil

Jornal Brasileiro de Pneumologia, 2009
OBJETIVO: Determinar a prevalência das deformidades congênitas da parede torácica anterior em escolares de 11 a 14 anos. MÉTODOS: Participaram do estudo escolares da rede estadual de ensino da cidade de Manaus (AM).
Fernando Luiz Westphal, Luiz Carlos de Lima, José Corrêia Lima Neto, Altair Rodrigues Chaves, Vítor Lazarini dos Santos Júnior, Brena Luize Cunha Ferreira   +5 more
doaj   +1 more source

Bilateral congenital chest wall defects associated with microtia: First case report

Journal of Pediatric Surgery Case Reports, 2022
Congenital chest wall defects are uncommon and present commonly at birth or later in infancy. The most common types are pectus excavatum, pectus carinatum, and sternal clefts. We present the first case report of multiple congenital anomalies that include
Ayman Alkhamisy, Atya Gb, Ghada Alyousef, Fatema Alzahraa Alseddiki, Mohamad Morjan   +4 more
doaj   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, Volume 159, Issue 7, Page 1707-1714, 1 October 2026.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source

Noonan syndrome with somnambulism: A rare case report

Industrial Psychiatry Journal, 2020
Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000–2500 live births. Characteristic features of the condition include distinctive myopathic facial features, hypertelorism, short and broad nose, webbed ...
Samiksha Sahu, Suprakash Chaudhury, Daniel Saldanha   +2 more
doaj   +1 more source