| Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females. | |
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MedLine Citation:
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PMID: 15057123 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Minna H Pöyhönen; Maarit M Peippo; Leena K Valanne; Kirsti E Kuokkanen; Susanna M Koskela; Oliver Bartsch; Sasan Rasi; Glenis J Wiebe; Marketta Kähkönen; Helena A Kääriäinen |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 13 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2004 Apr |
Date Detail:
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Created Date: 2004-04-01 Completed Date: 2004-11-10 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 85-90 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland. minna.poyhonen@vaestoliitto.fi |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Corpus Callosum / abnormalities* Face / abnormalities* Female Humans Hypertrichosis / pathology* Magnetic Resonance Imaging Mental Retardation / pathology* |
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