Related Experiment Video
Updated: Aug 25, 2026

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three
Minna H Pöyhönen1, Maarit M Peippo, Leena K Valanne
1Department of Medical Genetics, The Family Federation of Finland; Helsinki, Finland Department of Radiology, Helsinki University Hospital, Helsinki, Finland Department of Dermatology, Tampere University Hospital, Tampere, Finland Department of Clinical Genetics, Tampere University Hospital, Tampere, Finland Institute of Clinical Genetics, Dresden University of Technology, Dresden, Germany Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany Department of Medical Genetics, University of Turku and Clinical Genetics Unit, Turku University Hospital, Turku, Finland.
Abstract:
We report three unrelated patients with hypertrichosis, mild to moderate mental retardation, and dysmorphic facial features including low anterior hairline, thick arched eyebrows, nose with broad tip and columella below alae nasi, short philtrum, thick drooping lower lip and simple posteriorly rotated ears. They also had rough skin with hyperkeratotic plaques. Feet and finger tips were broad. All of them had personality problems like aggressiveness, stubborn temperament or tendency to withdraw. Brain MRI showed thick and short corpus callosum. We believe that these patients represent a new syndrome of unknown aetiology.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
08:03Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Related Concept Videos
Sex-linked Disorders
Meiosis I
Karyotyping
Pleiotropy
Nondisjunction
Nondisjunction