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Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation
Author(s) -
BrunettiPierri Nicola,
del Gaudio Daniela,
Peters Hartmut,
Justino Henri,
Ott ClausEric,
Mundlos Stefan,
Bacino Carlos A.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32530
Subject(s) - short stature , exon , brachydactyly , hypoplasia , dwarfism , genetics , medicine , syringomyelia , phenotype , biology , anatomy , pediatrics , magnetic resonance imaging , gene , radiology
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. © 2008 Wiley‐Liss, Inc.