Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics

Area of Science:

• Genetics
• Anthropology
• Medical imaging

Background:

• Phelan-McDermid syndrome (PMS) often presents with unique facial features, but a defined facial phenotype is lacking.
• Subjectivity in dysmorphology assessments highlights the need for objective evaluation methods.

Purpose of the Study:

• To quantitatively assess craniofacial features in individuals with Phelan-McDermid syndrome.
• To establish a characteristic facial phenotype for PMS using objective measurements.

Main Methods:

• Three-dimensional (3D) morphometric analysis of 100 PMS patients and 536 controls.
• Statistical analysis including principal component analysis (PCA), Procrustes MANOVA, and canonical variates analysis (CVA).

Main Results:

• Individuals with PMS exhibit quantitatively distinct craniofacial features compared to controls.
• Characteristic features include an elongated face, pointed chin, flattened midface, and nasal expansion.
• Distinct growth patterns observed, with accelerated growth in younger children with PMS.

Conclusions:

• Quantitative craniofacial assessment confirms a distinct facial phenotype in Phelan-McDermid syndrome.
• Facial features and growth patterns in PMS are quantitatively measurable.
• Further research correlating genotype with craniofacial development in PMS is warranted.