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Case Reports
. 2004 Apr;13(2):85-90.

Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females

Minna H Pöyhönen  1 , Maarit M Peippo, Leena K Valanne, Kirsti E Kuokkanen, Susanna M Koskela, Oliver Bartsch, Sasan Rasi, Glenis J Wiebe, Marketta Kähkönen, Helena A Kääriäinen
Affiliations
  • PMID: 15057123
Case Reports

Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females

Minna H Pöyhönen et al. Clin Dysmorphol. 2004 Apr.

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.

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