Preserved neurobehavioral abilities in Lujan-Fryns syndrome.
We present a patient with all the physical characteristics of Lujan-Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem-solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that Lujan-Fryns syndrome can be associated with partial preservation of neurobehavioral abilities.
Donders
Jacobus
J
Department of Psychology, Mary Free Bed Hospital, Grand Rapids, Michigan 49503, USA. jdonders@mfbrc.com
Toriello
Helga
H
van Doornik
Steven
S
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D019465:Craniofacial Abnormalities; D006801:Humans; D007621:Karyotyping; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology; D009123:Muscle Hypotonia / Q000473:pathology*; D009420:Nervous System / Q000503:physiopathology*; D009483:Neuropsychological Tests; D013577:Syndrome