Cargando…

Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 “protein-producing” mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac s...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rodagi, Sunil B., Surana, Snehal S., Potdar, Vijaykumar R., Kirdi, Sharanbasav S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879802/ https://www.ncbi.nlm.nih.gov/pubmed/27293527 http://dx.doi.org/10.4103/1995-705X.182644

Ejemplares similares

Holt-Oram Syndrome: A Rare Variant
por: Shankar, Binoy, et al.
Publicado: (2017)

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome
por: Ali, Tuncer Ahmet, et al.
Publicado: (2016)

Monilethrix with Holt-Oram Syndrome: Case Report of a Rare Association
por: Shah, Vivek, et al.
Publicado: (2015)

Holt-Oram Syndrome With Multiple Cardiac Abnormalities
por: Spiridon, Marilena Renata, et al.
Publicado: (2018)

Holt–Oram Syndrome: Hands are the Clue to the Diagnosis
por: Kumar, Basant, et al.
Publicado: (2019)

Holt-oram syndrome associated with double outlet right ventricle: A rare association
por: Singh, Bhupinder, et al.
Publicado: (2013)

Horseshoe Lung Associated With Holt-Oram Syndrome
por: Qin, Xu, et al.
Publicado: (2015)

Holt-Oram syndrome: a rare clinical image
por: Singh, Kshitij Aviraj, et al.
Publicado: (2023)

Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation
por: Kumar, Rupesh, et al.
Publicado: (2014)

Holt-Oram Syndrome: An Incidental Diagnosis
por: Gupta, Mehak, et al.
Publicado: (2022)

A case report on holt-oram syndrome (heart-hand)
por: Nourzad, Gholamreza, et al.
Publicado: (2011)

Anaesthetic Management of Emergency Cesarean Section in a Patient with Holt Oram Syndrome
por: Girish, Babu N, et al.
Publicado: (2010)

Asymptomatic phaeochromocytoma in a patient with Holt-Oram syndrome: a case report
por: Ng, Perryn, et al.
Publicado: (2019)

A Case Report of Thromboembolic Stroke in a Patient with Holt-Oram Syndrome
por: Abdelazeem, Basel, et al.
Publicado: (2022)

Holt-Oram Syndrome in a Patient with Crohn’s Disease: a Rare Case Report and Literature Review
por: Arkoumanis, Panagiotis-Theofanis, et al.
Publicado: (2018)

Holt–Oram Syndrome: Anesthetic Challenges and Safe Outcome
por: Rana, Meenal, et al.
Publicado: (2017)

A Rare Variant and Unusual Presentation of Holt Oram Syndrome in a Child
por: Reddy, Rasagnya M, et al.
Publicado: (2022)

Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
por: Aherne, Noel J., et al.
Publicado: (2013)

Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report
por: Usang, Usang E., et al.
Publicado: (2016)

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease
por: Ross, Samantha Barratt, et al.
Publicado: (2018)

Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome
por: Li, Xia, et al.
Publicado: (2022)

Diversity of congenital cardiac defects and skeletal deformities associated with the Holt–Oram syndrome
por: Chryssostomidis, Gregory, et al.
Publicado: (2014)

Holt Oram syndrome: a registry-based study in Europe
por: Barisic, Ingeborg, et al.
Publicado: (2014)

Anesthetic management of a patient with Holt-Oram syndrome undergoing right radial head excision
por: Shetti, Akshaya N., et al.
Publicado: (2014)

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome
por: Ríos-Serna, Lady J, et al.
Publicado: (2018)

Steroid-associated bradycardia in a newly diagnosed B precursor acute lymphoblastic leukemia patient with Holt–Oram syndrome
por: Morales, Raymond, et al.
Publicado: (2020)

Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome
por: Porto, Marianna P. R., et al.
Publicado: (2010)

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
por: Al-Qattan, Mohammad M., et al.
Publicado: (2015)

Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2)
por: Caglayan, Ahmet Okay, et al.
Publicado: (2008)

Case report: Novel TBX5-related pathogenic mechanism of Holt–Oram syndrome
por: Lang, Yuheng, et al.
Publicado: (2023)

Discovering miRNA Regulatory Networks in Holt–Oram Syndrome Using a Zebrafish Model
por: D’Aurizio, Romina, et al.
Publicado: (2016)

Atypical Carpal Tunnel Syndrome in a Holt Oram Patient: A Case Report and Literature Review
por: Mace, James, et al.
Publicado: (2014)

Possible Holt-Oram Syndrome: Missed Prenatal Diagnosis and Sub-Optimal Management in a Poor-Resourced Hospital
por: Osonuga, Ayokunle, et al.
Publicado: (2019)

Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report
por: He, Guan-nan, et al.
Publicado: (2021)

MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome
por: Chiavacci, Elena, et al.
Publicado: (2015)

Diagnosis of absent right superior vena cava with intraoperative transesophageal echocardiography in a child with Holt-Oram syndrome: Anesthetic and perfusion implications
por: Misra, Satyajeet, et al.
Publicado: (2021)

Atrial septal defect type II and upper limb malformation in 40-year-old male as a manifestation of Holt-Oram syndrome
por: Szymczyk, Ewa, et al.
Publicado: (2019)

Absent Left Main Coronary Artery and Separate Ostia of Left Coronary System in a Patient with Holt-Oram Syndrome and Sinus Node Dysfunction
por: Aung, Thein Tun, et al.
Publicado: (2016)

A novel de novo TBX5 mutation in a patient with Holt–Oram syndrome leading to a dramatically reduced biological function
por: Dreßen, Martina, et al.
Publicado: (2016)

Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt–Oram syndrome
por: Wang, De‐Gang, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_1372smb9orjmspkao9ujpn6jcs