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

Poyhonen, Minna H; Peippo, Maarit M; Valanne, Leena K; Kuokkanen, Kirsti E; Koskela, Susanna M; Bartsch, Oliver; Rasi, Sasan; Wiebe, Glenis J; Kahkonen, Marketta; Kaariainen, Helena A

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Journal Article

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

MPS-Authors

/persons/resource/persons219789

Wiebe, Glenis J
Max Planck Institute of Molecular Cell Biology and Genetics, Max Planck Society;

External Resource

No external resources are shared

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

Citation

Poyhonen, M. H., Peippo, M. M., Valanne, L. K., Kuokkanen, K. E., Koskela, S. M., Bartsch, O., et al. (2004). Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females. Clinical Dysmorphology, 13(2), 85-90.

Cite as: https://hdl.handle.net/21.11116/0000-0001-123B-9

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.