Meier-Gorlin syndrome: Report of eight additional cases and review

The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 2246 90) is a rare autosomal recessive disorder, characterized by the associatio n 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 a nd compare them with previously described cases. One of the present cases h ad previously undescribed genital anomalies. There is a difference in facia l characteristics between patients reported in early infancy and those desc ribed at older age; follow-up of patients is needed to substantiate this ch anging facial phenotype. We recommend radiographic survey of the patellae i n patients at older age to investigate the weight of absent or hypoplastic patellae in the diagnosis of the syndrome. (C) 2001 Wiley-Liss, Inc.