Meier-Gorlin syndrome: Report of eight additional cases and review
Article first published online: 18 JUL 2001
Copyright © 2001 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 102, Issue 2, pages 115–124, 1 August 2001
How to Cite
Bongers, E. M.H.F., Opitz, J. M., Fryer, A., Sarda, P., Hennekam, R. C.M., Hall, B. D., Superneau, D. W., Harbison, M., Poss, A., Bokhoven, H. v., Hamel, B. C.J. and Knoers, N. V.A.M. (2001), Meier-Gorlin syndrome: Report of eight additional cases and review. Am. J. Med. Genet., 102: 115–124. doi: 10.1002/ajmg.1452
- Issue published online: 20 JUL 2001
- Article first published online: 18 JUL 2001
- Manuscript Accepted: 11 APR 2001
- Manuscript Received: 7 MAR 2001
- Meier-Gorlin syndrome;
- Ear, patella, short stature syndrome;
- patellar aplasia/hypoplasia;
- short stature
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. © 2001 Wiley-Liss, Inc.