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Related Concept Videos

Cranial Bones: Lateral View01:27

Cranial Bones: Lateral View

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The lateral view of the cranium is dominated by temporal, sphenoid, and ethmoid bones.
The temporal bone forms the lower lateral side of the skull. The temporal bone is subdivided into several regions. The flattened upper portion is the squamous portion of the temporal bone. Below this area and projecting anteriorly is the zygomatic process of the temporal bone, which forms the posterior portion of the zygomatic arch. Posteriorly is the mastoid portion of the temporal bone. Projecting...
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Related Experiment Video

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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.

Katherine Weisensee1, Sara M Sarasua2, Lior Rennert3

  • 1Department of Anthropology, Sociology, and Criminal Justice, Clemson University, Clemson, South Carolina, USA.

Clinical Genetics
|February 18, 2026
PubMed
Summary

Phelan-McDermid syndrome (PMS) is characterized by distinct facial features, including an elongated face and pointed chin. Quantitative analysis reveals unique craniofacial patterns and growth differences in individuals with PMS.

Keywords:
Phelan–McDermid syndrome: SHANK3dysmorphologythree‐dimensional Morphometrics

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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.