Silver Russell syndrome

2008-09-01   Maria Piccione  , Giovanni Corsello  

Dipartimento Materno Infantile, University of Palermo, Italy

Identity

Name

Silver Russell syndrome

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.

Omim

180860 , 312780

Mesh

D056730

Orphanet

813 Silver-Russell syndrome

Umls

C0175693

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.
    • Atlas Image
    Fig1 : The patient with Silver Russell syndrome: growth retardation, craniofacial abnormalities, preservation of occipito-frontal head circumference, triangular face and body asymmetry.

    Differential diagnosis

    It is a clinical overlap with other syndromes associated with intrauterine growth retardation and craniofacial abnormalities (Table 1).
    Atlas Image
    Tab.1. Comparison of Silver Russell syndrome, Mulibrey nanism and progeria.

    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.

    Article Bibliography

    Pubmed IDLast YearTitleAuthors