2001/01/01 by Ernie M.H.F. Bongers, John M. Opitz, Alan Fryer +11 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer and Skin Lesions #Congenital limb and hand anomalies #Hedgehog Signaling Pathway Studies
paper · pdf · doi:10.1002/ajmg.1452
openalex publication_date 2001/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/25
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.