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3-M Syndrome: A Local Case Report.

Hafiz HabibUllah¹, Raidah Al-Baradie¹, Shahid Bashir²

¹Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

The American Journal of Case Reports

|January 10, 2019

Summary

3-M syndrome, a rare genetic disorder causing growth retardation and skeletal issues, requires early diagnosis for effective genetic counseling. This case report highlights a 3-year-old male diagnosed with 3-M syndrome, contributing to existing literature.

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Area of Science:

Genetics
Pediatrics
Rare Diseases

Background:

3-M syndrome is a rare genetic disorder characterized by severe growth retardation, dysmorphic features, and skeletal abnormalities.
Radiographic findings may include delayed bone maturation, long slender bones, and tall vertebral bodies.
Early diagnosis is crucial for genetic counseling due to the condition's inheritance pattern.

Observation:

A 3-year-old male patient presented with developmental delays, particularly in speech.
Clinical evaluation revealed features consistent with 3-M syndrome.

Findings:

The case report details a new patient diagnosed with 3-M syndrome.
This presentation adds to the existing body of literature on 3-M syndrome.

Implications:

This case underscores the importance of recognizing 3-M syndrome in pediatric patients with developmental delays.
Further case reports can aid in understanding the phenotypic spectrum and improving diagnostic accuracy for 3-M syndrome.