The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) 
is a rare autosomal recessive disorder, characterized by the association of 
bilateral microtia, aplasia/hypoplasia of the patellae, and severe pre- and 
postnatal growth retardation. Twenty-one cases have been reported in literature 
thus far. Here we report on eight patients from seven families and compare them 
with previously described cases. One of the present cases had previously 
undescribed genital anomalies. There is a difference in facial characteristics 
between patients reported in early infancy and those described at older age; 
follow-up of patients is needed to substantiate this changing facial phenotype. 
We recommend radiographic survey of the patellae in patients at older age to 
investigate the weight of absent or hypoplastic patellae in the diagnosis of the 
syndrome.