[Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]
1Ehemaliges Bezirkskrankenhaus für Psychiatrie und Neurologie, Mühlhausen/Thür.
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.
Related Concept Videos
Genetic Lingo
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Rheumatic Heart Disease I: Introduction


