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.