Results 41 to 50 of about 14,022 (262)

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Nosologia das doenças da mão de crianças e jovens operados em mutirões realizados em hospital de referência no estado de pernambuco Nosology of hand diseases in children and adolescents operated in provisional facilities in a model hospital - pernambuco state, Brazil

Revista Brasileira de Ortopedia, 2010
OBJETIVO: Relatar a frequência das doenças congênitas da mão operadas em sistema de mutirão no SOS Mão de Recife entre 2005 e 2009. MÉTODOS: Foram coletadas as informações de 833 crianças e adolescentes examinados em oito missões.
Mauri Cortez, Rui Ferreira da Silva, Alain Gilbert, Carlos Teixeira Brandt, Philippe Valenti   +4 more
doaj   +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

Nonvascular phalangeal transfer from toes to hand in congenital aphalangia

Acta Orthopaedica et Traumatologica Turcica, 2020
Objectives: Free transfer of the toe phalanges to the hand without vascular anastomosis is a proposed option for reconstruction of congenital aphalangia. We evaluated the growth behavior of the phalanges in patients after transfer.\nMethods: Six patients
Turker Ozkan, Samet Vasfi Kuvat, Atakan Aydin, Ahmet Bicer   +3 more
doaj  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Improving prenatal detection of congenital hand defects through collaborative goal-directed antenatal care: a case report on symbrachydactyly

Case Reports in Women's Health, 2020
Background: Prenatal ultrasonography for the detection of fetal structural anomaly is an important component of antenatal care. During the assessment, proximal limb deformities are readily diagnosed. Distal limb, especially digit, abnormalities, however,
Nnabuike Chibuoke Ngene, Lawrence Chauke
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Contemporary Management of the Upper Limb in Apert Syndrome: A Review

Plastic and Reconstructive Surgery, Global Open
Background:. Apert syndrome is a relatively rare genetic disorder with a constellation of distinct craniofacial deformities and bilateral syndactyly of the hands and feet.
Nathan Khabyeh-Hasbani, BA, Yi-Hseuh Lu, MD, PhD, William Baumgartner, MD, Shaun D. Mendenhall, MD, Steven M. Koehler, MD   +4 more
doaj   +1 more source