[Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome].
BACKGROUND
We report what is probably the first report of an association between congenital contractural arachnodactyly (CCA) and Brown's syndrome.


METHODS
A 7 (1/2)-year-old boy exhibited characteristic signs of CCA: multiple flexion contractures, marfanoid habitus and "crumpled" ears. In addition, the boy had Brown's syndrome. He had an up-gaze deficit and a slight down-shoot of the left eye in adduction. He held his head tilted to the left shoulder. As the cause, computed tomography revealed a thickening of the superior oblique muscle tendon near the trochlea. A molecular genetic examination revealed a mutation of Fibrillin-2 (FBN2 - 5 q 23 - q 31).


CONCLUSIONS
The association of the CCA and Brown's syndrome seems to be very rare. A specific link between the two mesenchymal disorders was not found. Probably the combination was coincidental.
Fehlow
P
P
Ehemaliges Bezirkskrankenhaus für Psychiatrie und Neurologie, Mühlhausen/Thür.
D000015:Abnormalities, Multiple / Q000235:genetics*; D018437:Brown-Sequard Syndrome / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003286:Contracture / Q000151:congenital* / Q000175:diagnosis*; D004108:Dilatation, Pathologic / Q000151:congenital; D005385:Fingers / Q000002:abnormalities*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics