Results 151 to 160 of about 54,466 (294)

Brachymetatarsia as an Early Clue to Turner Syndrome. [PDF]

Clin Case Rep
Mahfoud H, Elhanchi Z.
europepmc   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Multiple Spontaneous CSF Leaks in a Patient With Turner Syndrome: A Case Study. [PDF]

Clin Case Rep
Podolny AL, Kennedy CL, Adams ME, Venteicher AS.   +3 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

The role of hormonal markers in predicting reproductive lifespan in girls with Turner syndrome-a retrospective study. [PDF]

J Endocr Soc
van der Coelen S, Sas T, Richter-Unruh A, Braat D, Fleischer K, Nadesapillai S, IntHout J, van der Velden J.   +7 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Vestibular System and Hearing Involvement in Patients with Turner Syndrome. [PDF]

J Clin Med
Díaz Sánchez V, España Dos Santos H, Cabrera Pérez L, Marcos Alonso S, Benito González F, Sánchez Gómez H, Alonso San Eloy AB, Rivas MC, Batuecas Caletrio Á.   +8 more
europepmc   +1 more source

Perceived Social Capital of Women with Turner Syndrome

, 2018
This research study was conducted to answer the question: do women with Turner Syndrome have lower levels of social capital in a variety of areas compared to women of the same age range not diagnosed with Turner Syndrome, and does this affect their ...
Cragg, Stephanie Jasmine
core  

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome. [PDF]

Indian J Med Res
Bose C, Mondal S, Saha C, Sengupta N, Bhattacharyya NP, Mukhopadhyay S.   +5 more
europepmc   +1 more source