Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

Am J Med Genet A. 2005 Jul 15;136(2):185-9. doi: 10.1002/ajmg.a.30785.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adult
  • Base Sequence
  • Craniofacial Abnormalities
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Genes, Recessive / genetics*
  • Growth Disorders / pathology
  • Humans
  • Limb Deformities, Congenital / pathology
  • Male
  • Mutation*
  • Receptor Tyrosine Kinase-like Orphan Receptors
  • Receptors, Cell Surface / genetics*
  • Syndrome

Substances

  • Receptors, Cell Surface
  • DNA
  • ROR2 protein, human
  • Receptor Tyrosine Kinase-like Orphan Receptors