Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 136A, Issue 2, Pages 185-189Publisher
WILEY
DOI: 10.1002/ajmg.a.30785
Keywords
autosomal recessive Robinow syndrome; nephrocalcinosis; hypocitraturia; rudimentary kidney; mesomelia; gonadotropic hormones
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Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic fetal face dysmorphology. We report the clinical and molecular studies on two adults with this condition. Besides typical skeletal and facial features, one patient developed hydronephrosis, nephrocalcinosis, and renal failure. The second patient had characteristic skeletal manifestations including severe spinal involvement and showed endocrinological abnormalities including elevated gonadotropic hormones. The facial phenotype in both patients remained distinctive into adulthood. Analysis of the ROR2 gene revealed a homozygous c.1937_1943delACAAGCT mutation in Patient 1, and compound heterozygosity for c.355C > T (p.R119X). and c.550C > T (p.R184C) in Patient 2. (c) 2005 Wiley-Liss, Inc.
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