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Pediatric Holt Oram Syndrome

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Radial Longitudinal Deficiency: Severity Differences Between U.S. and Japanese Cohorts.

Schuyler J Halverson, Shinichiro Takayama, Kensuki Ochi, Atsuhito Seki, Lindley B Wall, Charles A Goldfarb,

PURPOSE:Radial longitudinal deficiency (RLD) presents on a spectrum of severity and associated diagnoses. The literature is limited in describing patient presentation without comparative data between countries. In a study comparing 2 cohorts of patients, 1 in the United States and 1 in Japan, we hypothesized that there would be a ... Read more >>

J Hand Surg Am (The Journal of hand surgery)
[2020, 45(3):196-202.e2]

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Complete and Incomplete Pentalogy of Cantrell.

Ranjit I Kylat,

Pentalogy of Cantrell (PC) is a malformation characterized by defects in the ventral abdominal wall, lower sternum, diaphragmatic pericardium, anterior diaphragm associated with omphalocele, thoraco-abdominal ectopia cordis, diaphragmatic hernia, and intracardiac abnormalities. PC is stratified as complete or incomplete and we present both the complete and incomplete forms. ... Read more >>

Children (Basel) (Children)
[2019, 6(10):]

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Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome.

Nariaki Miyao, Keiichi Hirono, Yukiko Hata, Naoki Yoshimura, Fukiko Ichida,

Pediatr Int (Pediatrics international : official journal of the Japan Pediatric Society)
[2019, 61(6):607-609]

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Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses.

Marcin Wiśniewski, Mariusz Baumgart, Magdalena Grzonkowska, Zygmunt Siedlecki, Maciej Piec, Michał Szpinda, Katarzyna Pawlak-Osińska,

PURPOSE:The medical literature still lacks studies on the size of the radial shaft primary ossification center, thus preventing us from potentially relevant data in diagnosing skeletal dysplasias, i.e., TAR syndrome, VATER syndrome, Holt-Oram syndrome, Fanconi anemia and Edwards syndrome, frequently characterized by disrupted or retarded fetal growth. MATERIALS AND METHODS:The ... Read more >>

Surg Radiol Anat (Surgical and radiologic anatomy : SRA)
[2019, 41(8):901-909]

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A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome.

Lady J Ríos-Serna, Lorena Díaz-Ordoñez, Estephania Candelo, Harry Pachajoa,

Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed ... Read more >>

Appl Clin Genet (The application of clinical genetics)
[2018, 11:157-162]

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Awareness of oral health in adults with congenital heart disease.

Stefan Hollatz, Annette Wacker-Gussmann, Saskia Wilberg, Matthias Folwaczny, Rhoia Neidenbach, Harald Kaemmerer, Peter Ewert, Renate Oberhoffer,

Background:Poor oral health is known to be a risk factor for infective endocarditis (IE) and acquired cardiovascular disease. Many patients with congenital heart disease (CHD) are at risk for developing IE. Excellent oral health is deemed essential to prevent IE, a potentially life-threatening condition, and therefore is important in adults ... Read more >>

Cardiovasc Diagn Ther (Cardiovascular diagnosis and therapy)
[2019, 9(Suppl 2):S281-S291]

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Holt-Oram Syndrome With Multiple Cardiac Abnormalities.

Marilena Renata Spiridon, Antoniu Octavian Petris, Eusebiu Vlad Gorduza, Anca Sabina Petras, Roxana Popescu, Lavinia Caba,

Holt-Oram syndrome (HOS) is a rare monogenic disorder characterized by upper limb abnormalities, congenital heart defects and/or conduction abnormalities. It is determined by mutations of TBX5 gene and is inherited in an autosomal dominant manner. Penetrance is complete, but variable expressivity is present, which gives sometimes diagnostic difficulties. Our case ... Read more >>

Cardiol Res (Cardiology research)
[2018, 9(5):324-329]

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Radiographically Occult Symptomatic Lunotriquetral Coalition in a Child.

Ravi V Patel, Monica S Epelman, Arthur B Meyers,

Carpal coalitions are congenital segmentation anomalies with an abnormal union of one or more carpal bones. They can be broadly classified as osseous or non-osseous and as partial or complete. Lunotriquetral coalitions are the most common type of carpal coalition and are typically asymptomatic and detected incidentally. However, there are several case reports ... Read more >>

Cureus (Cureus)
[2019, 11(8):e5364]

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Electrical disorders in atrial septal defect: genetics and heritability.

Hisaaki Aoki, Minoru Horie,

Atrial septal defect (ASD) is one of the most common types of congenital heart diseases (CHDs). Most ASDs occur sporadically, but some are inherited and associated with cardiac conduction defects such as atrioventricular block (AVB) or bundle branch block. Mutations in genes encoding transcription factor gene TBX5 and NKX2-5, were ... Read more >>

J Thorac Dis (Journal of Thoracic Disease)
[2018, 10(Suppl 24):S2848-S2853]

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Duane retraction syndrome in a patient with abnormal head position.

Şule Gökçe, Zeynep Büşra Albayram, Gülizar Turan, Elif Demirkılınç Biler, Sema Aydoğdu,

Duane's syndrome is a rare retraction anomaly characterized by an innervation defect in the lateral rectus muscle, limitation of abduction and adduction due to the result of abnormal innervation of the horizontal rectus muscles, changes in the eyelid fissures, and abnormal vertical eye movements. The affected eye is displaced up ... Read more >>

Turk Pediatri Ars (Turk pediatri arsivi)
[2019, 54(3):196-199]

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Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome.

Bojian Li, Sun Chen, Kun Sun, Rang Xu, Yurong Wu,

Holt-Oram syndrome (HOS) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and congenital heart defects. Alterations of TBX5 gene have been identified to be the leading cause of HOS, while some cases could not be explained by TBX5 mutations. In our study, we preliminarily diagnosed ... Read more >>

DNA Cell Biol. (DNA and cell biology)
[2018, 37(4):398-404]

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Surgical ductal stent implantation in total anomalous pulmonary venous connection to vena porta with right pulmonary sequestration in a mature newborn.

Huseyin Avni Solgun, Tugcin Bora Polat,

In many cases of total anomalous pulmonary venous connection (TAPVC), the four pulmonary veins (PV) join together behind the left atrium, where they form a collector. This collector can drain into the right atrium directly through the innominate vein into the superior vena cava (SVC), into the coronary sinus (CS), ... Read more >>

Ann Med Surg (Lond) (Annals of medicine and surgery (2012))
[2019, 45:33-35]

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VACTERL association - Ultrasound findings and autopsy correlation.

Naman Kumar Gaur, Sudheer Gokhale,

VACTERL (vertebral, anal, cardiac, tracheoesophagus, renal, and limbs) is an abbreviation for the congenital group of abnormalities, including vertebral or vascular anomalies, anal atresia, cardiac defects, tracheoesophageal - fistula/esophageal atresia, renal defects, and limbs defects. It is a rare association and not accidental event where several organs are affected by ... Read more >>

Indian J Radiol Imaging (The Indian journal of radiology & imaging)
[2018, 28(4):452-455]

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Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.

Anna Zlotina, Artem Kiselev, Alexey Sergushichev, Elena Parmon, Anna Kostareva,

"Heart-hand" type syndromes represent a group of rare congenital conditions that combine cardiac pathology (structural defect or arrhythmic disorder) and limb abnormality. Significant clinical variability and genetic heterogeneity typical for such syndromes complicate correct diagnosis, prognosis, and appropriate genetic counseling of the affected families. By now, only single genes have ... Read more >>

Front Genet (Frontiers in Genetics)
[2018, 9:209]

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KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.

Rami Darwich, Wenjuan Li, Abir Yamak, Hiba Komati, Gregor Andelfinger, Kun Sun, Mona Nemer,

TBX5, a member of the T-box family of transcription factors, is a dosage sensitive regulator of heart development. Mutations in TBX5 are responsible for Holt-Oram Syndrome, an autosomal dominant disease with variable and partially penetrant cardiac defects suggestive of the existence of genetic and environmental modifiers. KLF13, a member of ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2017, 26(5):942-954]

Cited: 2 times

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Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome.

Tuncer Ahmet Ali, Karavelioğlu Afra, Baskin Embleton Didem, Elmas Muhsin,

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature. ... Read more >>

J Indian Assoc Pediatr Surg (Journal of Indian Association of Pediatric Surgeons)
[2016, 21(4):193-195]

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Cardiovascular Disease in the Young Council's Science and Clinical Education Lifelong Learning Committee: Year in Review.

Sushma Reddy, Bradley S Marino, Carissa M Baker-Smith, Andrea Beaton, Catherine D Krawczeski, Christina Y Miyake, James F Cnota, Andrew C Glatz, Brian Feingold, Jennifer C Romano, Antonio G Cabrera, Anitha S John, Meryl S Cohen,

J Am Heart Assoc (Journal of the American Heart Association)
[2018, 7(21):e010617]

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Pallister-Hall Syndrome.

Sadanandvalli Retnaswami Chandra, Mane Maheshkumar Daryappa, M A Mukheem Mudabbir, M Pooja, A Arivazhagan,

Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up, we report an extremely ... Read more >>

J Pediatr Neurosci (Journal of pediatric neurosciences)
[2017, 12(3):276-279]

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Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

Hatice Koçak Eker, Umut Altunoglu, Güven Toksoy, Hülya Kayserili,

Clin. Dysmorphol. (Clinical dysmorphology)
[2016, 25(4):192-194]

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Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.

Litao Qin, Guiyu Lou, Liangjie Guo, Yuwei Zhang, Hongdan Wang, Li Wang, Qiaofang Hou, Hongyan Liu, Xichuan Li, Shixiu Liao,

Congenital hand malformations is rare and characterized by hand deformities. It is highly heterogeneous, both clinically and genetically, which complicates the identification of causative genes and mutations. Recently, targeted next-generation (NGS) sequencing has been successfully used for the detection of heterogeneous diseases, and the use of NGS also has contributed ... Read more >>

Sci Rep (Scientific reports)
[2018, 8(1):12721]

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Carpal Coalitions and Metacarpal Synostoses: A Review.

Michael B Gottschalk, Maxim Danilevich, Hilton P Gottschalk,

Background: Carpal coalition and metacarpal synostosis are uncommon congenital anomalies of the carpus and hand. Methods: A comprehensive review of the literature was performed to help guide surgical and non-surgical treatment of carpal coalition and metacarpal synostosis. Results: The embryology, epidemiology, medical and surgical management, and associated outcomes are detailed. ... Read more >>

Hand (N Y) (Hand (New York, N.Y.))
[2016, 11(3):271-277]

Cited: 3 times

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The Prevalence of Congenital Hand and Upper Extremity Anomalies Based Upon the New York Congenital Malformations Registry.

Charles A Goldfarb, Neil Shaw, Jennifer A Steffen, Lindley B Wall,

There have been few publications regarding the prevalence of congenital upper extremity anomalies and no recent reports from the United States. The purpose of this investigation was to examine the prevalence of congenital upper extremity anomalies in the total birth population of New York State over a 19-year period utilizing ... Read more >>

J Pediatr Orthop (Journal of pediatric orthopedics)
[2017, 37(2):144-148]

Cited: 2 times

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Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Donna J Page, Matthieu J Miossec, Simon G Williams, Richard M Monaghan, Elisavet Fotiou, Heather J Cordell, Louise Sutcliffe, Ana Topf, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Sally L Dunwoodie, David S Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, Koenraad Devriendt, Marc Gewillig, J David Brook, Kerry J Setchfield, Frances A Bu'Lock, John O'Sullivan, Graham Stuart, Connie R Bezzina, Barbara J M Mulder, Alex V Postma, James R Bentham, Martin Baron, Sanjeev S Bhaskar, Graeme C Black, William G Newman, Kathryn E Hentges, G Mark Lathrop, Mauro Santibanez-Koref, Bernard D Keavney,

RATIONALE:Familial recurrence studies provide strong evidence for a genetic component to the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease phenotype. Rare genetic variants have been identified as important contributors to the risk of congenital heart disease, but relatively small numbers of TOF ... Read more >>

Circ. Res. (Circulation research)
[2019, 124(4):553-563]

Cited: 2 times

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Defining Features of the Upper Extremity in Holt-Oram Syndrome.

Lindley B Wall, Samantha L Piper, Rolf Habenicht, Scott N Oishi, Marybeth Ezaki, Charles A Goldfarb,

To investigate the distinguishing morphological characteristics of children with radial longitudinal deficiency (RLD) in Holt-Oram syndrome (HOS).One hundred fourteen involved extremities in 62 patients with a diagnosis of HOS were identified at 3 institutions. Medical records and radiographs were evaluated. Radial longitudinal deficiency and thumb hypoplasia were classified according to ... Read more >>

J Hand Surg Am (The Journal of hand surgery)
[2015, 40(9):1764-1768]

Cited: 1 time

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Novel copy number variants and major limb reduction malformation: Report of three cases.

Hanan E Shamseldin, Shams Anazi, Salma M Wakil, Eissa Faqeih, Heba Y El Khashab, Mustafa A Salih, Mohammad M Al-Qattan, Mais Hashem, Haifa Alsedairy, Fowzan S Alkuraya,

Limb reduction malformations are highly heterogeneous in their clinical presentation and so, predicting the underlying mutation on a clinical basis can be challenging. Molecular karyotyping is a powerful genomic tool that has quickly become the mainstay for the study of children with malformation syndromes. We describe three patients with major ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2016, 170A(5):1245-1250]

Cited: 3 times

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