Bongers E M, Opitz J M, Fryer A, Sarda P, Hennekam R C, Hall B D, Superneau D W, Harbison M, Poss A, van Bokhoven H, Hamel B C, Knoers N V
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.
Am J Med Genet. 2001 Aug 1;102(2):115-24. doi: 10.1002/ajmg.1452.
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.
