Results 41 to 50 of about 58,220 (206)

Silver–Russell syndrome [PDF]

Best Practice & Research Clinical Endocrinology & Metabolism, 2011
The Silver-Russell syndrome (SRS) is a sporadic clinically and genetically heterogeneous disorder. Diagnosis is based on the variable combination of the following characteristics: intrauterine growth retardation, short stature because of lack of catch-up growth, underweight, relative macrocephaly, typical triangular face, body asymmetry and several ...
Gerhard, Binder, Matthias, Begemann, Thomas, Eggermann, Kai, Kannenberg   +3 more
  +8 more sources

Silver–Russell syndrome in siblings with orthodontic management

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2023
Silver–Russell syndrome (SRS) is a rare congenital abnormality. The incidence ranges from 1 in 3000 to 100,000 live births. It is characterized by low birth weight, asymmetric limb, relative macrocephaly, high forehead, small triangular-shaped face with ...
Vijaylaxmi Mendigeri, Praveen Ramdurg, Fatima Zohar Lingadalli, Sanjay Ganeshkar   +3 more
doaj   +1 more source

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

Atrial septal defect and patent ductus arteriosus closure in an 8‐month‐old patient with Silver‐Russell syndrome

Clinical Case Reports, 2021
We present a case of an 8‐month‐old boy with Silver‐Russell syndrome who had high pulmonary vascular resistance, atrial septal defect, and patent ductus arteriosus. He underwent cardiac surgery using cardiopulmonary bypass without any complications.
Ryoma Oda, Keisuke Nakanishi, Shiori Kawasaki, Atsushi Amano   +3 more
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

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

Orphanet Journal of Rare Diseases, 2021
Background Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt.
R. Meyer, M. Begemann, C. Hübner, D. Dey, A. Kuechler, Magdeldin Elgizouli, U. Schara, L. Ambrozaitytė, B. Burnytė, C. Schröder, Asmaa Kenawy, P. Kroisel, S. Demuth, G. Fekete, T. Opladen, M. Elbracht, T. Eggermann   +16 more
semanticscholar   +1 more source

New developments in Silver-Russell syndrome and implications for clinical practice [PDF]

, 2016
Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features.
Ishida, M
core   +1 more source

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

Molecular Cytogenetics, 2021
Background Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3).
Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin   +7 more
doaj   +1 more source

Silver: Russell syndrome with cryptorchidism

Annals of Medical and Health Sciences Research, 2013
Sir, An 8-year-old boy was admitted for evaluation of bilateral undescended testes and short stature. The boy is a product of non-consanguineous marriage and was delivered at term with birth weight of 1.5 kg. The parents noticed a mild facial asymmetry since birth and poorly developed scrotum with absent testicles. After evaluation, the parents were
Reddy, H Babul, Neelaveni, K, Kumar, KVS Hari   +2 more
openaire   +3 more sources

Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome [PDF]

, 2015
Pure ovarian choriocarcinoma is an extremely rare malignancy that can be gestational or non-gestational in origin. Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterized by pre- and postnatal growth failure, relative ...
Haruma, Tomoko, Hiramatsu, Yuji, Katayama, Takaaki, Kusumoto, Tomoyuki, Nakamura, Keiichiro, Nishida, Takeshi, Ogawa, Chikako, Seki, Noriko   +7 more
core   +1 more source