title: Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.forename: Daniela
authors.initials: D
authors.lastname: Del Gaudio
authors.forename: Hartmut
authors.initials: H
authors.lastname: Peters
authors.forename: Henri
authors.initials: H
authors.lastname: Justino
authors.forename: Claus-Eric
authors.initials: CE
authors.lastname: Ott
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Bacino
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D004480:Ectromelia / Q000235:genetics; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D005835:Genitalia / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D057050:Receptor Tyrosine Kinase-like Orphan Receptors; D011956:Receptors, Cell Surface / Q000235:genetics*; D013131:Spine / Q000002:abnormalities; D013577:Syndrome
chemical_list: D017931:DNA Primers; D011956:Receptors, Cell Surface; C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors