Pectus carinatum

INTRODUCTION: International research suggests that poor patient compliance is the main cause of tutor failures in the context of potential novel orthopedic bivalve braces for conservative treatment of pectus carinatum. Our entire experimental study is based on the hypothesis that a rigid bivalve brace that patients can accept could solve the main problem associated with the conservative approach-poor compliance. The hypothesis was to reduce the thickness and weight of the classic bivalve brace to ensure concealment and make it sustainable enough to be worn several hours a day without compromising its therapeutic efficacy...

Chest wall deformities are congenital disorders characterized by abnormal development and appearance of the thoracic wall. The most common form is the pectus excavatum deformity, known as shoemaker's chest. Pectus carinatum, known as pigeon chest, is the second most common deformity. In general, most patients are asymptomatic, but cardiopulmonary problems may accompany the disease. The indication for treatment is mostly cosmetic. Treating patients before they reach adulthood increases the chance of success...

Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia...

BACKGROUND: Literature data suggest high inter-study variability in mitral valve prolapse (MVP) prevalence among individuals with thoracic skeletal abnormalities (TSA). This systematic review aimed at estimating the overall prevalence of MVP in individuals with the most common TSA, including not only the oldest studies (before the year 2000) but also the most recent ones (after the year 2000). METHODS: PubMed and EMBASE databases were systematically reviewed in November 2023...

BACKGROUND AND OBJECTIVE: A wide variety of congenital chest wall deformities that manifest in infants, children and adolescents exists, among which are pectus excavatum and pectus carinatum. Numerous studies have been conducted over the years aiming to better understand these deformities. This report provides a brief overview of what is currently known about the epidemiology, etiopathogenesis, clinical presentation, and classification of these deformities, and highlights the gaps in knowledge...

BACKGROUND: Ehlers-Danlos syndrome (EDS) refers to a group of heritable connective tissue disorders (HCTDs). Clinical hallmarks of EDS include tissue fragility, joint hypermobility, and skin hyperextensibility. One of the consequences of tissue fragility is abnormal wound healing and scar formation, posing potential challenges for surgeons treating these patients. There are limited previous reports of EDS patients undergoing mastectomy and/or breast reconstruction, and none wherein the patient had diagnoses of both vascular EDS (vEDS) and classical EDS (cEDS)...

The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia caused by homozygous or compound heterozygous mutations in the MBTPS1 gene. The MBTPS1 gene encodes a protein that is involved in the regulation of cholesterol and fatty acid metabolism. Mutations in MBTPS1 can lead to reduced levels of these lipids, which can have a number of effects on development, including skeletal anomalies, growth retardation, and elevated levels of blood lysosomal enzymes. This work reports the case of a 5-year-old girl with SEDKF...

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a child featuring familial short stature. METHODS: A child who was admitted to Huzhou Maternal and Child Health Care Hospital on October 7, 2021 for growth retardation and pectus carinatum was selected as the study subject. Physical exam and medical imaging was performed. The child was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing and bioinformatic analysis...

Chest wall deformities in children encompass a broad spectrum of disorders but pectus excavatum and carinatum are by far the most common. Treatment varies substantially by center, and depends on patient symptoms, severity of disease, and surgeon preference. Historically, surgical approaches were the mainstay of treatment for these disease processes but new advances in non-surgical approaches have demonstrated reasonable results in select patients. These non-surgical approaches include vacuum bell therapy, autologous fat grafting and hyaluronic acid injections for pectus excavatum, and orthotic brace therapy for pectus carinatum...

BACKGROUND: Dynamic compression system (DCS) is often effective at treating pectus carinatum (PC). However, some patients will fail therapy. This study reports outcomes from a nurse-practitioner led bracing program, and evaluates what factors are predictive of successful therapy. METHODS: We performed a retrospective cohort study involving all patients treated with DCS bracing at our institution between February 2018 and February 2022. Patients with at least three visits were included...

INTRODUCTION: Anterior chest wall deformities consist of abnormal development of the chest, with the most common congenital deformities being pectus excavatum (PE) and pectus carinatum (PC). Surgical series are common, but less research is present assessing the demographics of all who present for initial evaluation. The purpose of this study is to describe the patient characteristics of those who present for ambulatory surgical evaluation. METHODS: Data were collected from initial patient visits to an established multispecialty chest wall deformities program at a large Children's Hospital from 2017 to 2021...

Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion of carpal and tarsal bones, and clubfoot. Other common manifestations are cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Homozygous variants in FLNB are known to cause SCT. This study was aimed to investigate the phenotypic and genetic basis of unique presentation of SCT syndrome segregating in a consanguineous Pakistani family...

3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000-197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less well-described. We used the online 3q29 registry of 206 individuals (3q29deletion.org) to recruit 57 individuals with 3q29del (56.14% male) and requested information about musculoskeletal phenotypes with a custom questionnaire...

INTRODUCTION: The most common chest wall deformities are pectus excavatum and pectus carinatum. Surgical repair of these deformities via minimally invasive technique using pectus bars is commonly preferred by numerous thoracic surgeons. Despite this common choice for treatment, the duration of the bar stay, the bar removal process, the possible complications and ways to prevent them have been debated over the years and still there is no single decision. AIM: To determine the decision making, surgical outcomes and negative factors in the bar removal process...

Pectus carinatum is a chest wall deformity that is often treated through the wearing of an external brace. The treatment of the deformity could benefit from a greater understanding of chest wall characteristics under prolonged loading. These characteristics are difficult to model directly but empirical studies can be used to create statistical models. 185 patients from 2018-2020 received bracing treatment. Data on the severity of the deformity, treatment pressures, and time of wear were recorded at the first fitting and all subsequent follow-up visits...

Pectus carinatum is characterized by a protruding sternum. This deformity can be surgically corrected through the minimally invasive Abramson technique. In this procedure, a presternal metal correctional bar, secured to rib-attached stabilizers, is implanted to redress the sternum to a neutral position. To anticipate the intended position of the sternum, manual compression is applied over the sternal deformity. We describe a modified version of the Abramson procedure, encompassing a table-mounted PectusAssist™ System which generates a constant mechanical compression over the protruding sternum...

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BACKGROUND: Pectus anomalies constitute 95% of chest anomalies. Pectus carinatum (PC) and excavatum (PE) are often asymptomatic in childhood. However, symptoms and signs such as chest pain, dyspnea, and mitral valve prolapse (MVP) can be seen in pectus anomalies. Demographic characteristics and accompanying cardiac signs in children with pectus deformity were investigated. METHODS: In this study, the clinical findings for children with pectus deformity, and the incidence of MVP and other concomitant heart diseases detected in echocardiographic examinations were evaluated...

Multifocal tuberculosis (TB) accounts for up to one-third of all cases of TB and children are at higher risk for extrapulmonary TB than adults. Spinal TB is the regular form of skeletal TB. Spondylodiscitis TB represents 47%-94% of spinal TB. Cervical localization is rare but remains dangerous because of diagnostic difficulties and severe complications. We report a case of a 10-year-old Moroccan girl, bacille Calmette-Guerin vaccinated, with no medical history or trauma, parents and siblings are healthy and no contact with TB...

INTRODUCTION: Chromosomal abnormalities are mostly found in 0.5-0.8% of live-born infants with developmental and morphological defects. Paracentric inversions are structural intrachromosomal rearrangements resulting in a risk of chromosomally unbalanced gametes in carriers. CASE PRESENTATION: Herein, we report a patient with dicentric rearrangement of chromosome 18 due to maternal paracentric inversion of chromosome 18. The patient was a girl, aged 3 years and 11 months...