Results 1 to 10 of about 5,420 (125)

Russell–Silver syndrome associated with low conus medullaris

Journal of Pediatric Neurosciences, 2016
Russell–Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry.
Larisa Gabor, Huseyin Canaz, Gokhan Canaz, Nursu Kara, Ibrahim Alatas, Hakan Bozkus   +5 more
doaj   +2 more sources

Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report [PDF]

Case Reports in Pediatrics, 2012
Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years.
Mohsen Javadzadeh, Hedieh Saneifard, Amir Hossein Hosseini   +2 more
doaj   +2 more sources

Patients With Berardinelli–Seip and Silver–Russell Syndromes Hospitalized due to Coronavirus Disease (COVID)-19 in Brazil: A Four-Year Case Report Profile [PDF]

Case Reports in Infectious Diseases
Berardinelli–Seip syndrome is a rare genetic disorder characterized by the near absence of subcutaneous fat and a high prevalence of metabolic complications, such as diabetes mellitus and cardiovascular disease, which may worsen coronavirus disease ...
Luiz Felipe Azevedo Marques, Adriele Evelyn Ferreira Silva, Patrícia Teixeira Costa, Lucas Silva Mello, Vinícius Santiago dos Santos, Fernando Augusto Lima Marson   +5 more
doaj   +2 more sources

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

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

Silver-Russell syndrome: phenotype features and oral health status [PDF]

Orphanet Journal of Rare Diseases
Background Silver-Russell Syndrome is a rare malformation syndrome with a variable clinical and genetic presentation. Its incidence is estimated at 1:70.000–1:100.000 births.
Paula Piekoszewska-Ziętek, Aneta Witt-Porczyk, Krystyna Chrzanowska, Małgorzata Zadurska, Dorota Olczak Kowalczyk   +4 more
doaj   +2 more sources

Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy [PDF]

Indian Journal of Endocrinology and Metabolism, 2012
A 6 years male child was referred to our Endocrinology clinic with complaints of failure to thrive and he displayed the characteristic features of Russell Silver Syndrome which included short stature, relative macrocephaly, triangular facies and ...
J V Mascarenhas, Vageesh S Ayyar
doaj   +2 more sources

Limb lengthening in children with Russell–Silver syndrome: A comparison to other etiologies [PDF]

Journal of Children's Orthopaedics, 2013
Introduction/background Russell–Silver syndrome (RSS) is the combination of intrauterine growth retardation, difficulty feeding, and postnatal growth retardation. Leg length discrepancy (LLD) is one of four major diagnostic criteria of RSS and is present
V. Goldman, T. H. McCoy, M. D. Harbison, A. T. Fragomen, S. R. Rozbruch   +4 more
doaj   +2 more sources

Integrating Social and Clinical Determinants of Pre-Eclampsia: A Hierarchical Systematic Review and Conceptual Framework for Prevention. [PDF]

BJOG
ABSTRACT Background Pre‐eclampsia is a leading cause of maternal and perinatal morbidity and mortality, with risk factors reported across a vast literature base fragmented between social and clinical factors. Objective To develop a comprehensive conceptual framework of the strongest risk factors and their relationships contributing to pre‐eclampsia ...
Kinshella MW, Bone JN, Elawad T, Mistry HD, Poye L, Tsigas E, Devadas D, Mateljan V, Volvert ML, Vidler M, Blencowe H, Filippi V, Magee LA, von Dadelszen P, PRECISE Network.   +14 more
europepmc   +2 more sources

Syndrome de Silver Russell: A propos de 3 cas et revue de la litterature [PDF]

The Pan African Medical Journal, 2013
Le syndrome de Silver Russell (SSR) est une maladie génétique rare. Sa prévalence estimée à 1/100.000. Il s'agit d'une pathologie de l'empreinte parentale, caractérisée par une grande diversité phénotypique.
Afaf Lamzouri, Ilham Ratbi, Abdelaziz Sefiani   +2 more
doaj   +2 more sources

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion [PDF]

Scientific Reports
Silver-Russell syndrome (SRS, MIM#180860) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, feeding difficulties, and body asymmetry.
Alessandro Vimercati, Giuseppa Patti, Pierpaola Tannorella, Sara Guzzetti, Luciano Calzari, Lara Branca, Melissa Bellini, Lidia Larizza, Flavia Napoli, Anna Elsa Maria Allegri, Mohamad Maghnie, Silvia Russo   +11 more
doaj   +2 more sources