[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.

CASE REPORT

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.