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Start Over Author "Peippo, Maarit" Journal clinical dysmorphology
4 results on '"Peippo, Maarit"'

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

Author

P??yh??nen, Minna H., primary, Peippo, Maarit M., additional, Valanne, Leena K., additional, Kuokkanen, Kirsti E., additional, Koskela, Susanna M., additional, Bartsch, Oliver, additional, Rasi, Sasan, additional, Wiebe, Glenis J., additional, K??hk??nen, Marketta, additional, and K????ri??inen, Helena A., additional

Published
2004
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4. Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.

Author

Pöyhönen MH, Peippo MM, Valanne LK, Kuokkanen KE, Koskela SM, Bartsch O, Rasi S, Wiebe GJ, Kähkönen M, and Kääriäinen HA

Subjects
Adolescent, Child, Female, Humans, Magnetic Resonance Imaging, Agenesis of Corpus Callosum, Face abnormalities, Hypertrichosis pathology, Intellectual Disability pathology
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.

Published
2004

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