Results 51 to 60 of about 8,769 (269)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

New Notations for Better Morphological Distinction of Postaxial Polydactyly of the Foot

Plastic and Reconstructive Surgery, Global Open, 2022
Background:. There have been many reports on the classification and treatment of postaxial polydactyly of the foot. However, despite its being a common congenital anomaly, there is no universal notation about its morphology. Methods:.
Yuka Hirota, MD, PhD, Koichi Ueda, MD, PhD, Chizuru Umeda, MD, Eriko Yoshida, MD   +3 more
doaj   +1 more source

Progressive digital gigantism due to macrodystrophia lipomatosa: Surgical management and functional restoration in a pediatric patient

Journal of the Foot & Ankle
Macrodystrophia lipomatosa is a rare, non-hereditary congenital malformation characterized by disproportionate tissue growth, with fibro-fat proliferation.
Gabriela Rosa Meira, Felipe Alves do Monte, Rodrigo Pastick Fujino, Clicia Grazielly de Lima Moura, Myllena Caetano Leite Inácio dos Santos   +4 more
doaj   +1 more source

Treatment of congenital foot deformity in children

Yakut Medical Journal, 2020
Foot deformations in children with no proper correction are often accompanied by pain, functional changes and high risk of developing disability, which determines the high social significance of the nosology. The aim of this study was to evaluate the effectiveness of treatment of children's foot deformations in outpatient and inpatient settings. In the
openaire   +1 more source

Pattern of Congenital Musculoskeletal Deformities at the State Hospital, Abeokuta, South-West Nigeria

, 2009
Background: Congenital anomalies are recognisable causes of disability in developed and developing countries. 2-4% of newborns worldwide have congenital anomalies affecting various systems including the musculoskeletal system. The incidence of congenital
Aigoro, NF, Popoola, M, Oloko, M
core   +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

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Influence od associated clinical findings on the lenght of treatment of valgus deformity of the foot in newborn and infants [PDF]

Sestrinska reč
Introduction: Valgus foot deformity is one of the most common congenital foot deformities. During the examination of newborns and infants, the presence of other associated deformities is frequently observed.
Bujaković Dijana
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