Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 21, Pages 2804-2809Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.32530
Keywords
Robinow syndrome; syringomyelia; ROR2; intragenic deletion
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Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on the clinical and molecular finding of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which ahs not been previously reported in Robinow syndrome. (c) 2008 Wiley-Liss, Inc.
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