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[The Silver-Russell syndrome]

B Spano¹, F Cossu, R Oggiano

¹Istituto di Puericultura e Neonatologia, Università degli Studi di Sassari.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics

|July 1, 1993

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This case study details Silver-Russell Syndrome (SRS), a rare genetic disorder characterized by severe growth deficits. It highlights key features and explores potential causes of SRS, offering insights into this complex condition.

Area of Science:

Genetics
Pediatrics
Endocrinology

Background:

Silver-Russell Syndrome (SRS) is a rare imprinting disorder affecting fetal and postnatal growth.
Characterized by intrauterine growth restriction, postnatal growth failure, and distinct facial features.

Observation:

Presents a clinical case of SRS with severe growth deficiency.
Documents major and minor clinical manifestations observed in the patient.

Findings:

Detailed description of the phenotypic spectrum of Silver-Russell Syndrome.
Discussion of potential pathogenetic mechanisms contributing to SRS development.

Implications:

Enhances understanding of SRS clinical presentation and variability.

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Contributes to the ongoing research into the etiology of growth disorders.