Results 41 to 50 of about 3,040 (188)

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

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

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Brace compression for treatment of pectus carinatum: a rapid health technology assessment [PDF]

, 2023
Folkehelseinstituttet har utarbeidet en forenklet metodevurdering om korsettbehandling av pasienter med pectus carinatum. Tilstanden, som ofte kalles «fuglebryst», kjennetegnes ved at fremre del av brystkassen stikker unormalt mye frem og forekommer hos ...
Arentz-Hansen, Helene, Stoinska-Schneider, Anna, Chaudhry, Fawaz, Risstad, Hilde, Næss, Gunn Eva, Giske, Liv   +5 more
core  

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

Delay in Diagnosis of Classical Homocystinuria

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake, Reena Sharma, Diane Green, John Bassett, Tarekegn Geberhiwot, Charlotte Dawson   +5 more
wiley   +1 more source

Personal experience in minimally invasive treatment of pectus carinatum

, 2015
Pectus Carinatum is the second mostly encountered congenital chest wall deformity following Pectus Excavatum. Deformity becomes apparent during puberty, due to active growth; which leads to cosmetic and psychosocial problems.

core   +1 more source

Pectus Excavatum and Pectus Carinatum in dogs [PDF]

, 2020
Background: Deformities of the anterior thoracic wall are called pectus: pectus excavatum and pectus carinatum. Pectus excavatum is characterised by dorsal deviation of the caudal region of the sternum while pectus carinatum consists of protrusion of the
Néspoli, Pedro Eduardo Brandini, de Almeida, Arleana do Bom Parto Ferreira, Souza, Claudia Luvian, Jaworski, Lorena Tavares de Brito Nery, Baia, Giovanna Oliveira, Prass, Daniela, Sousa, Valéria Régia Franco, Rezende, Bianca Costa   +7 more
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