Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes

Am J Med Genet. 2002 Jan 1;107(1):48-51. doi: 10.1002/ajmg.10083.

Abstract

We report on an Italian boy with the Meier-Gorlin syndrome (ear-patella-short stature syndrome). This rare autosomal recessive disorder comprises the triad of microtia, absent patellae, and growth retardation with prenatal onset. The patient had also an acute torsion of his left spermatic cord, a condition related to a congenital defect of the tunica vaginalis. Because this syndrome had been suggested as the human equivalent of the short ear mouse [Lacombe et al., 1994: Ann. Genet. 37:184-191], a mutation analysis of the BMP5 gene was performed and found normal. The LMX1B and the SHOX genes were also evaluated considering the absent patellae and short stature, respectively, and were found normal as well.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Basal Cell Nevus Syndrome / genetics*
  • Bone Morphogenetic Protein 5
  • Bone Morphogenetic Proteins / genetics*
  • Dwarfism / complications
  • Dwarfism / genetics
  • Fetal Growth Retardation / complications
  • Fetal Growth Retardation / genetics
  • Homeodomain Proteins / genetics*
  • Humans
  • Italien
  • LIM-Homeodomain Proteins
  • Male
  • Patella / abnormalities
  • Polymorphism, Single-Stranded Conformational
  • Short Stature Homeobox Protein
  • Syndrome
  • Transcription Factors

Substances

  • BMP5 protein, human
  • Bmp5 protein, mouse
  • Bone Morphogenetic Protein 5
  • Bone Morphogenetic Proteins
  • Homeodomain Proteins
  • LIM homeobox transcription factor 1 beta
  • LIM-Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein
  • Transcription Factors