Results 51 to 60 of about 3,013 (187)

Pectus updates and special considerations in Marfan syndrome

Pediatric Reports, 2018
Congenital chest wall or pectus deformities including pectus excavatum (funnel chest) and pectus carinatum (pigeon chest) affect a significant proportion of the general population and up to 70% of patients with Marfan syndrome.
Stephanie Fraser, Anne Child, Ian Hunt
doaj   +1 more source

Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy

Journal of Pediatric Surgery Case Reports, 2021
Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can ...
Nelimar Cruz Centeno, Victor N. Ortiz Justiniano   +1 more
doaj   +1 more source

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

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

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

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

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

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 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

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