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Author Topic:   Pseudo-Treacher Collins syndrome
posted 01-27-2000 10:23 AM     Click Here to See the Profile for Administrator     Edit/Delete Message Reply w/Quote
We have recently seen a family in which the combination of apparent
branchial arch anomalies and minor digital defects is inherited as an
autosomal dominant trait. They had been diagnosed as having Treacher
Collins syndrome, but that clearly is not the correct diagnosis. They are
very motivated to have someone try to identify the gene. There are at least
6 affected individuals in three generations.
Please contact:
Helga Toriello, Ph.D.
Genetics Services
21 Michigan St.
Suite 465
Grand Rapids, MI 49503

phone: 616-391-2701
fax: 616-391-3114
Email: helga.toriello@spectrum-health.org


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