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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
384
Smith-Magenis Syndrome: Face Speaks
Rekha Gupta1, Neerja Gupta2, Sheela Nampoothiri3
1Department of Medical Genetics, Mahatma Gandhi Medical College and Hospital, Jaipur, Rajasthan, India.
Indian Journal of Pediatrics
|December 18, 2015
Summary
Smith-Magenis syndrome, a microdeletion disorder, presents with distinct facial features. Diagnosis is aided by molecular cytogenetics and characteristic facial phenotypes, even without initial clinical suspicion.
Area of Science:
- Genetics
- Clinical Medicine
- Molecular Biology
Background:
- Smith-Magenis syndrome (SMS) is a distinct microdeletion syndrome.
- It is characterized by a specific facial and behavioral phenotype.
- Advanced molecular cytogenetic techniques facilitate diagnosis.
Purpose of the Study:
- To present the clinical features of nine Indian cases of Smith-Magenis syndrome.
- To highlight the diagnostic utility of characteristic facial phenotypes.
- To discuss the role of advanced genetic testing in SMS diagnosis.
Main Methods:
- Multi-targeted molecular cytogenetic techniques were employed.
- Multiplex Ligation Probe Amplification (MLPA) and cytogenetic microarray were utilized.
- Clinical data and photographic evidence of nine Indian SMS cases were analyzed.
Main Results:
- Nine Indian cases of Smith-Magenis syndrome were analyzed.
- Characteristic facial phenotypes, including tented upper lip, broad forehead, midface hypoplasia, short philtrum, and upslant of palpebral fissures, were observed.
- Behavioral variations were noted but were not always presenting features.
Conclusions:
- Characteristic facial phenotypes are crucial clinical indicators for diagnosing Smith-Magenis syndrome.
- Molecular cytogenetic techniques enable diagnosis even without strong clinical suspicion.
- Early identification through facial features and genetic testing is vital for patient management.
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