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Neonatal death in Marshall-Smith syndrome
C Chatel1, F Maazoul, S Sigaudy
1Département de Génétique Médicale Hôpital d'Enfants de la Timone, Marseille, France.
Genetic Counseling (Geneva, Switzerland)
|April 29, 1998
Summary
Marshall-Smith syndrome (MSS) involves rapid bone aging, poor growth, and unusual facial features. This case highlights MSS
Area of Science:
- Genetics and Developmental Biology
- Pediatric Pathology
Background:
- Marshall-Smith syndrome (MSS) is a rare genetic disorder.
- Characterized by accelerated skeletal maturation, failure to thrive, and distinctive dysmorphic features.
Observation:
- A case report of a patient with Marshall-Smith syndrome presenting with very early mortality.
- Clinical presentation underscored significant variability within the syndrome.
Findings:
- The importance of systematic skeletal X-rays in diagnosing fetal or neonatal deaths.
- Early death in this patient highlights the severe end of the MSS clinical spectrum.
Implications:
- Systematic skeletal radiography is crucial for identifying the etiology of unexplained fetal and neonatal deaths.
- Further research into MSS pathogenesis may reveal therapeutic targets.
- Understanding MSS variability aids in accurate diagnosis and genetic counseling.