Results 21 to 30 of about 10,203 (190)

Anesthesia experience in an adult Silver-Russell syndrome: a case report [PDF]

JA Clinical Reports
Background There are no reports of anesthesia use in adult patients with Silver-Russell syndrome (SRS). Here, we report our experience with anesthesia in an adult patient with SRS complicated by chronic respiratory failure.
Akinobu Hibino, Ayaka Hibino, Yoshinori Kamiya   +2 more
doaj   +2 more sources

Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach [PDF]

Medicina
Background and Objectives: Silver–Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry.
Slavyana Galeva, Giuliana Diglio, Boris Stoilov, Ekaterina Uchikova, Lucian Pop   +4 more
doaj   +2 more sources

Mosaic UPD(7q)mat in a patient with silver Russell syndrome

Molecular Cytogenetics, 2017
Background Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features.
Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang, Yiping Shen   +11 more
doaj   +2 more sources

Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion

Case Reports in Urology, 2016
Russell-Silver syndrome (RSS) is a type of primordial dwarfism. Only one case of testicular cancer in RSS has been reported, the pathology of which was nonseminoma.
Satoshi Funada, Ryosuke Ikeuchi, Toru Yoshida, Takehiko Segawa   +3 more
doaj   +2 more sources

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review [PDF]

Clinical Epigenetics
Silver–Russell syndrome (SRS) is a representative imprinting disorder characterized by pre- and postnatal growth failure. We encountered two Japanese SRS cases with a de novo pathogenic frameshift variant of HMGA2 (NM_003483.6:c.138_141delinsCT, p ...
Kaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, Masayo Kagami, Tsutomu Ogata   +4 more
doaj   +2 more sources

Russell-Silver Syndrome: A Case Report with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Russell-Silver syndrome is a disorder present at birth characterized by low birth weight, poor postnatal growth, craniofacial disproportion, clinodactyly, normal intelligence, downward curvature of the corner of the mouth, syndactyly, cafe-au-fait spots,
Sreedevi, Sunil Chaudhary, P G Agnihotri, Praveen B Reddy, N B Nagaveni   +4 more
doaj   +2 more sources

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome [PDF]

JCI Insight
Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear.
Avinaash V. Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D. Joustra, Barbara Triggs-Raine, Masanobu Fujimoto, Sarina G. Kant, Danielle van der Kaay, Agnes Clement-de Boers, Alice S. Brooks, Gabriel Amador Aguirre, Irene Martín del Estal, María Inmaculada Castilla de Cortázar Larrea, Ahmed Massoud, Hermine A. van Duyvenvoorde, Christiaan De Bruin, Vivian Hwa, Thomas Klonisch, Sabine Hombach-Klonisch, Helen L. Storr   +19 more
doaj   +2 more sources

First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome. [PDF]

Sultan Qaboos Univ Med J, 2023
Silver-Russell Syndrome (SRS) is a disorder that is primarily characterised by intrauterine growth restriction which may occur asymmetrically or in whole, leading to a fetus being small relative to its gestational age. We present a female infant (proband)
Hamza N, Al-Araimi M, Al Salmani K, Al Obeidani S.   +3 more
europepmc   +2 more sources

Genetic syndromes associated with overgrowth in childhood [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2013
Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific ...
Jung Min Ko
doaj   +1 more source

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

Italian Journal of Pediatrics, 2020
Background Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early life,
Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione   +6 more
doaj   +1 more source