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Related Experiment Video

Updated: Jun 28, 2026

Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers

Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers

Published on: March 14, 2018

Silver-russell syndrome: a case report.

Sunil Kumar¹, Ap Jain, Sachin Agrawal

¹Department of Medicine, Mahatma Gandhi Institute of Medical Sciences, Sewagram, Wardha, (Maharashtra), India. drsunilkr_med@yahoomail.co.in.

|November 11, 2008

Summary

A 15-year-old boy with left-sided hemihypertrophy was diagnosed with Silver-Russell syndrome (SRS), a rare genetic disorder causing body asymmetry. Genetic studies were not possible due to facility limitations.

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Last Updated: Jun 28, 2026

Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers

Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers

Published on: March 14, 2018

Area of Science:

Genetics
Pediatrics
Neurology

Background:

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation and body asymmetry.
Hemihypertrophy, specifically affecting one side of the body, is a common feature in SRS.
Seizures can be a presenting symptom in pediatric patients with genetic syndromes.

Purpose of the Study:

To report a case of a 15-year-old male diagnosed with Silver-Russell syndrome.
To highlight the clinical presentation of hemihypertrophy and convulsions in SRS.
To underscore the challenges in diagnosing rare genetic disorders without advanced genetic testing facilities.

Main Methods:

Clinical diagnosis based on physical examination and patient history.
Assessment of hemihypertrophy (left-sided).
Evaluation of recurrent convulsive episodes.

Main Results:

The patient presented with left-sided hemihypertrophy and a history of recurrent convulsions.
A clinical diagnosis of Silver-Russell syndrome was made.
Genetic studies could not be performed due to resource limitations.

Conclusions:

This case illustrates the clinical manifestation of Silver-Russell syndrome in an adolescent male.
Early clinical suspicion is crucial for diagnosing SRS, even in the absence of genetic confirmation.
The management of SRS requires a multidisciplinary approach, addressing growth, asymmetry, and potential neurological complications like seizures.