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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
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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 +3 more
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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 +6 more
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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 +7 more
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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 +2 more
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Síndrome de Silver-Russell: relato de caso Silver-Russell Syndrome: case report
Revista CEFAC, 2006 OBJETIVO: descrever o fenótipo da síndrome de Silver-Russell (SSR) e apresentar um caso diagnosticado com esta afecção genética, abordando aspectos genéticos, psicológicos e fonoaudiológicos.
Natalia Freitas Rossi +3 more
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Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report
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 +2 more
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Silver-Russell Syndrome and Cognitive Disorders
Pediatric Neurology Briefs, 1995 Cognitive abilities of 20 boys and 5 girls, aged 6 to 11 years, with Silver-Russell syndrome were investigated at the Prince of Wales Hospital, Shatin, Hong Kong, the Institute of Child Health, and Middlesex Hospital, London, UK.
J Gordon Millichap
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A Case Report of Silver-Russell Syndrome in Iran
Journal of Dental School, 2020 Objectives Silver-Russell syndrome (SRS) is a rare genetic disorder which is typically characterized by prenatal and postnatal growth failure and asymmetry in the size of the two halves or other parts of the body.
Arezoo Mahdian +2 more
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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 +11 more
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