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[The Silver-Russel syndrome].

M Sarotti¹, C Zilocchi, P Bianchi

¹Reparto di Patologia Neonatale, Ospedale di Seriate, Italia.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics

|March 1, 1992

Summary

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This case study discusses Silver-Russell syndrome, a growth deficit disorder. Researchers identified key features and suggested a potential maternal cause, excluding genetic factors.

Area of Science:

Pediatrics
Genetics
Endocrinology

Background:

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation.
Key features include a prominent forehead, facial asymmetry, and a characteristic triangular facial appearance.
While genetic factors are common, non-genetic causes are increasingly recognized.

Observation:

The case presents severe growth deficits noted from intrauterine development.
The patient exhibited constant major features and numerous variable minor features of SRS.
Not all characteristic features were present at birth.

Findings:

The authors excluded a genetic etiology for the observed Silver-Russell syndrome.
A potential maternal cause for the syndrome was proposed based on clinical observations.

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The study highlights the complexity of SRS etiology beyond purely genetic origins.

Implications:

This case broadens the understanding of Silver-Russell syndrome's potential origins.
It underscores the importance of considering non-genetic, particularly maternal, factors in SRS diagnosis.
Further research into environmental and maternal influences on fetal growth is warranted.