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[XXXXY syndrome]

L Toudic, G L'Henoret, D Rivière

Archives Francaises De Pediatrie

|April 1, 1982

Summary

This summary is machine-generated.

This case report details a child diagnosed with 49 XXXXY syndrome, identified early due to distinct craniofacial and cardiac issues. Key symptoms included growth delays, skeletal abnormalities, and significant intellectual disability.

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Area of Science:

Genetics
Pediatrics
Developmental Biology

Background:

49 XXXXY syndrome is a rare chromosomal abnormality.
Early diagnosis is crucial for managing associated health issues.

Observation:

A pediatric case presenting with craniofacial anomalies and congenital cardiac malformations.
The patient exhibited characteristic features of 49 XXXXY syndrome.

Findings:

Diagnosis was facilitated by early identification of dysmorphic features and cardiac defects.
Primary symptoms observed were growth retardation, craniofacial abnormalities, hypogonadism, frequent bone lesions, and severe intellectual disability.

Implications:

Highlights the importance of recognizing syndromic features for timely diagnosis.

Informs clinical management strategies for patients with 49 XXXXY syndrome.

Contributes to understanding the phenotypic spectrum of X-chromosome polysomy disorders.