Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.
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.
Pöyhönen
Minna H
MH
Department 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.
Peippo
Maarit M
MM
Valanne
Leena K
LK
Kuokkanen
Kirsti E
KE
Koskela
Susanna M
SM
Bartsch
Oliver
O
Rasi
Sasan
S
Wiebe
Glenis J
GJ
Kähkönen
Marketta
M
Kääriäinen
Helena A
HA
D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000473:pathology*; D008607:Intellectual Disability / Q000473:pathology*; D008279:Magnetic Resonance Imaging