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Silver Russell syndrome

Written2008-09Maria Piccione, Giovanni Corsello
Dipartimento Materno Infantile, University of Palermo, Italy

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Identity

Atlas_Id 10149
Note The Silver Russell syndrome is characterized by intrauterine and postnatal growth retardation, craniofacial abnormalities, body asymmetry and delayed bone maturation.
Inheritance Most of patients with Silver Russell syndrome are sporadic, although autosomal recessive, autosomal dominant and X-linked dominant modes of inheritance have all been suggested.

Etiology : The Silver Russell syndrome is genetically heterogeneous. Maternal uniparental disomy of chromosome 7 is observed in 7-10% of patients (7p11.2-p13 and 7q31-qter regions). More than 35% of patients carry a hypomethylation of the telomeric imprinting centre region 1 (ICR1) in 11p15 including the H19 and IGF-II genes; single patients show a maternal duplication of 11p15. Rare chromosomal rearrangements were found in the Silver Russell like syndrome involving the short arm of chromosome 7, the short and long arm chromosome 17 and the long arm chromosome 1.

Clinics

Phenotype and clinics Abnormalities :

  • Growth : intrauterine growth retardation, short stature/dwarfism, poor postnatal growth below or lower than 2DS at diagnosis, delayed skeletal maturation during infancy.
  • Craniofacial : Preservation of occipito-frontal head circumference, triangular face with prominent forehead, low-set ears, downturned mouth (fig.1).
  • Skeletal findings : delayed closure of anterior fontanella, delayed bone maturation, non progressive skeletal asymmetry, clynodactyly of fifth finger, brachydactyly V fingers, syndactyly and camptodactyly.

    Occasional abnormalities :

  • Cardivascular anomaly : atrial septal defect and pulmonary stenosis.
  • Performance : muscular hypotonia and hypotrophy, rare motor/neuropsychological delay, feeding difficulties, speech delay.
  • Gastrointestinal anomalies : gastroesophageal reflux disease and esophagitis.
  • Hypoglicemia
  • Genital abnormalities : hypospadia, criptorchidism and inguinal hernia.
  • Skin : café au lait spots.
  • Tumors : testicular cancer , hepatocellular carcinoma, craniopharyngioma and supratentorial juvenile pilocystic astrocytoma.
  •  
    Differential diagnosis It is a clinical overlap with other syndromes associated with intrauterine growth retardation and craniofacial abnormalities (Table 1).
     
    Evolution Multidisciplinary management (pediatric, endocrinologic care etc.) is necessary. Growth hormone does not allow the target height to be reached.
    Prognosis Beyond short stature and slender build, long-term prognosis is good.

    Bibliography

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    The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
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    Citation

    This paper should be referenced as such :
    Piccione, M ; Corsello, G
    Silver Russell syndrome
    Atlas Genet Cytogenet Oncol Haematol. 2009;13(9):688-690.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Tumors/SilverRussellID10149.html


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