3M Syndrome: A Report of Four Cases
Author Information
Author(s): Güven Ayla, Cebeci Ayşe Nurcan
Primary Institution: Göztepe Educational and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey
Hypothesis
The aim of this paper is to add four new patients from two different families to the literature on 3M syndrome.
Conclusion
All four patients presented with clinical, radiographic, and biochemical findings characteristic of 3M syndrome.
Supporting Evidence
- The patients exhibited physical findings characteristic of 3M syndrome.
- All patients were born small for gestational age.
- Normal GH responses were obtained in all patients except one.
- The diagnosis of 3M syndrome was established based on clinical and radiographic findings.
Takeaway
3M syndrome is a rare condition that causes severe short stature and specific physical features, and this study adds four new cases to what we know about it.
Methodology
The study involved clinical evaluations, radiographic examinations, and biochemical tests of four patients diagnosed with 3M syndrome.
Limitations
Genetic analyses could not be performed for some patients due to family circumstances.
Participant Demographics
Four children (3 males, 1 female) aged between 4 and 11 years from two families.
Digital Object Identifier (DOI)
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