Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
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.
Brunetti-Pierri
Nicola
N
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Del Gaudio
Daniela
D
Peters
Hartmut
H
Justino
Henri
H
Ott
Claus-Eric
CE
Mundlos
Stefan
S
Bacino
Carlos A
CA
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
D017931:DNA Primers; D011956:Receptors, Cell Surface; C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors