Managing Children with Russell-Silver Syndrome: More than Just Growth Hormone Treatment?

Christoforidis, Athanasios; Maniadaki, Ilianna; Stanhope, R

doi:10.1515/jpem.2005.18.7.651

Cited by 17 publications

(12 citation statements)

References 13 publications

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“…Below, we review these rare congenital disorders caused most frequently by epigenetic mutations, and also briefly present sev eral other imprintingrelated diseases in which epimutations are less frequently involved. n Silver-Russell syndrome SRS (OMIM180860) is a rare (incidence one in 100,000 [13]) and mostly sporadic disorder char acterized by IUGR, postnatal growth retardation, facial dysmorphism, feeding difficulties and body asymmetry [14]. It is a genetically heterogeneous disorder in which, in rare cases, maternal UPD of chromosome 7 and sometimes other chro mosomal alterations are detected [15,16].…”

Section: Human Disorders Caused By Epigenetic Alterations At Imprintementioning

confidence: 99%

Epigenetic Deregulation of Genomic Imprinting in Humans: Causal Mechanisms and Clinical Implications

2013

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Mammalian genes controlled by genomic imprinting play important roles in development and diverse postnatal processes. A growing number of congenital disorders have been linked to genomic imprinting. Each of these is caused by perturbed gene expression at one principal imprinted domain. Some imprinting disorders, including the Prader-Willi and Angelman syndromes, are caused almost exclusively by genetic mutations. In several others, including the Beckwith-Wiedemann and Silver-Russell growth syndromes, and transient neonatal diabetes mellitus, imprinted expression is perturbed mostly by epigenetic alterations at 'imprinting control regions' and at other specific regulatory sequences. In a minority of these patients, DNA methylation is altered at multiple imprinted loci, suggesting that common trans-acting factors are affected. Here, we review the epimutations involved in congenital imprinting disorders and the associated clinical features. Trans-acting factors known to be causally involved are discussed and other trans-acting factors that are potentially implicated are also presented.

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Section: Human Disorders Caused By Epigenetic Alterations At Imprintementioning

confidence: 99%

Epigenetic Deregulation of Genomic Imprinting in Humans: Causal Mechanisms and Clinical Implications

2013

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“…Many RSS children are treated with human growth hormone (hGH) to treat abnormally short stature. Increased linear growth without concomitant increase in limb length discrepancy was reported in the setting of RSS patients [8][9][10][11]. Various conditions have been indicated for hGH treatment, including congenital short stature, Turner syndrome, Prader-Willi syndrome, Noonan syndrome, chronic renal failure, congenital adrenal hyperplasia, idiopathic small stature, and small for gestational age complex [12][13][14][15][16][17][18][19].…”

Section: Introductionmentioning

confidence: 99%

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

Goldman

McCoy

Harbison

et al. 2013

Journal of Children's Orthopaedics

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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 in most cases. We aimed to ascertain whether pediatric RSS patients will adequately consolidate bony regenerate following leg lengthening. Materials and methods We retrospectively reviewed pediatric RSS patients who underwent limb lengthening and compared them to a similar group of patients with LLD resulting from tumor, trauma, or congenital etiology. The primary outcome measurement was the bone healing index (BHI). Results The RSS group included seven lengthened segments in five patients; the comparison group included 21 segments in 19 patients. The groups had similar lengthening amounts (3.3 vs. 3.9 cm, p = 0.507). The RSS group healed significantly faster (lower BHI) than the control group (BHI 29 vs. 43 days/cm, p = 0.028). Secondary analysis showed no difference between RSS and trauma patients in terms of the BHI (29 vs. 31); however, the BHI of the RSS group was significantly lower than both of the other congenital etiologies (29 vs. 41, p = 0.032) and tumor patients (29 vs. 66, p = 0.019). The RSS patients had fewer and less significant complications than the controls. Discussion The limb lengthening regenerate healing of RSS patients is faster than the healing of patients with other congenital etiologies and tumor patients, and is as fast as the regenerate healing of patients with posttraumatic LLD. Although all RSS patients were treated with human growth hormone (hGH), we are unable to isolate the hGH contribution to the regenerate bone healing. We conclude that RSS patients can have safe limb lengthening.

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“…Le SSR, décrit pour la première fois en 1953 [1], est une maladie rare dont la prévalence est estimée à 1/100.000 [2]. Environ 400 cas ont été rapportés dans la littérature [3].…”

Section: Discussionunclassified

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

Lamzouri¹,

Ratbi²,

Sefiani³

2013

Pan Afr Med J

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Le syndrome de Silver Russell (SSR) est une maladie génétique rare. Sa prévalence est estimée à 1/100.000. Il s’agit d’une pathologie de l’empreinte parentale, caractérisée par une grande diversité phénotypique. Ses signes cliniques majeurs sont: un retard de croissance intra-utérin sévère, un retard staturo-pondéral post natal, une dysmorphie cranio-faciale particulière et une asymétrie des membres. Nous rapportons dans ce travail les observations de trois patients, qui présentent un retard staturo-pondéral, une dysmorphie faciale caractéristique du SSR et une hemihypertrophie corporelle. Nous discutons à travers ces cas les aspects cliniques et génétiques de ce rare syndrome.

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Managing Children with Russell-Silver Syndrome: More than Just Growth Hormone Treatment?

Cited by 17 publications

References 13 publications

Epigenetic Deregulation of Genomic Imprinting in Humans: Causal Mechanisms and Clinical Implications

Epigenetic Deregulation of Genomic Imprinting in Humans: Causal Mechanisms and Clinical Implications

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

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

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