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The Marshall-Smith syndrome.
A Charon1, Y Gillerot, L Van Maldergem
1Centre de Genetique, Institut de Morphologie Pathologique de Loverval, Belgium.
European Journal of Pediatrics
|November 1, 1990
Summary
Marshall-Smith syndrome is a rare genetic disorder featuring rapid bone aging and growth issues. This case report details the 17th known instance, contributing to understanding this condition.
Area of Science:
- Genetics
- Pediatrics
- Skeletal Biology
Background:
- Marshall-Smith syndrome is a rare genetic disorder.
- It is characterized by accelerated skeletal maturation, failure to thrive, and distinctive facial features.
Observation:
- This report presents the 17th documented case of Marshall-Smith syndrome.
- The case involves a patient exhibiting the typical features of the syndrome.
Findings:
- The case confirms the characteristic accelerated skeletal maturation seen in Marshall-Smith syndrome.
- Failure to thrive and dysmorphic features were also noted, consistent with previous descriptions.
Implications:
- This case adds to the limited body of knowledge on Marshall-Smith syndrome.
- Further research into the genetic basis and clinical management of this rare disorder is warranted.