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Abstract
Silver-Russell Syndrome (SRS) is a very rare genetic disorder present at birth that involves poor growth, low birth weight, short stature and differences in the size of the two sides of the body. We present 8years male boy came to Mahatma Gandhi Memorial Hospital, Warangal, Telangana, with complaints of cryptorchidism, triangular face, maxillary hypoplasia, and is height and weight are less than 3rd percentiles. No history of consanguineous marriage of their parents. Growth hormone therapy is often considered for the child with SRS.
Keywords: silver-russell syndrome, short stature,cryptorchidism, maxillary hypoplasia
Introduction
Silver-Russell Syndrome (SRS) is a clinically and genitically a heterogeneous disorder of growth with a wide range of additional dysmorphic features. SRS may compromise different disorders with clinically related to phenotypes or may result from disturbance ofdifferent components of a single biochemical or endocrinological pathways are involved.1,2 SRS is also called as asymmetry dwarf-dysgenesis syndrome.3 The estimated incidence of SRS is approximately 1/50,000 to 1/100,000 births.4 Male and female children are equally affected.The disease in children was characterized by congenital hemi hypertrophy, low birth weight, short stature, facial abnormalities, growth retardation.5,6
Case report
We report a case of an 8-years-old boy came to Mahatma Gandhi Memorial Hospital, Warangal, Telangana on physical examination the boy was appeared to be cryptorchidism, triangular facies, maxillary hypoplasia, and his height and weight are less than 3rd percentiles. His parents did not have a consanguineous marriage. Electroencephalography and head Magnetic resonance Imaging showed normal results. Kidney, liver and thyroid lab reports were normal. Growth hormone stimulation test shows low levels of growth hormone. Based on these symptoms and lab reports it was diagnosed as SRS. Treatment includes Recombinant human growth hormone is given subcutaneous injection at a dose of 0.48mg/kg per week, physiotherapy and nutritional support was advised and counseled for regular follow up and discharged (Figure 1).
Figure 1 The boy was appeared to be cryptorchidism, triangular facies, maxillary hypoplasia, and his height and weight are less than 3rd percentiles.
Discussion
SRS was first described Silver and his colleagues in 1953 and later by Russell in 1954. In 1953, Silver et al reported two unrelated children with congenital hemihypertrophy, low birth weight, and short stature7 and in 1954 Russell described five unrelated children with extreme intrauterine growth retardation and characteristic facial features.4 Clinically and genetically SRS is a heterogeneous disorder, and the reason is unknown.
Chromosome abnormalities are involved in these disease among them chromosomes 7 and 17 are frequently involved. In 7% of sporadic cases, maternal uniparentaldisomy of chromosome 7 has been identified. Recent findings suggested that imprinting defects in the region of 11p15 is also pays in SRS.8–11 According to pathophysiologically, growth failure is a primary abnormality. Patients typically present with intrauterine growth retardation, difficulty in feeding, failure to thrive, or postnatal growth retardation and also growth hormone insufficiency may be present. Abnormalities of natural growth hormone secretion and subnormal responses to stimulating growth hormone stimulation have been reported in a significant number of children with SRS.12,13 Diagnostic criteria recently proposed that SRS should have at least 4 criteria they are dysmorphic facies characterized by small triangular facies, a high forehead with small jaws, prominent nasal bridge, small chin,together with a wide, thin, “shark like mouth”. Growth and skeletal asymmetry of the limbs manifested as hemihypertophy, clinodactyly of the fifth finger, syndactyly of second and third toes were also impartant criteria of SRS.7,14
Conclusion
SRS is a growth and skeletal disorder associated with a lot of morbidity. Early diagnosis and treatment is important to avoid joint deformities. Identification of the underlying molecular subtype can guide treatment with regard to specific risk factors. Management should involve a multi-disciplinary approach and close parental guidance. Growth hormone, and in more severe cases surgery is needed to lengthen limbs. Nutritional support and physiotherapy are also advised in SRS.
Acknowledgments
None.
Conflicts of interest
The authors declare no conflicts of interest related to this article.
Funding
None.
References
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- Russell A. A syndrome of “intra–uterine” dwarfism recognizable at birth with cranio–facial dysostosis, disproportionately short arms, and other anomalies (5examples). Proc R Soc Med. 1954;47(12):1040–1044.
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- Langlois S, Yong SL, Wilson RD, et al. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet. 1995;32(11):871–875.
- Eggermann T, Wollmann HA, Kuner R, et al. Molecular studies in 37 Russell syndrome patients: frequency andetiology of uniparentaldisomy. Hum Genet. 1997;100(3–4):415–419.
- Moore GE, Abu–Amero S, Wakeling E, et al. The search for the gene for Silver–Russell syndrome. Acta Paediatr Suppl. 1998;88(433):42–48.
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