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Am J Med Genet A. 2008 Nov 1;146A(21):2804-9. doi: 10.1002/ajmg.a.32530.

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

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  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

Abstract

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 findings 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 has not been previously reported in Robinow syndrome.

PMID:
18831060
DOI:
10.1002/ajmg.a.32530
[PubMed - indexed for MEDLINE]
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