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

Ernie M.H.F. Bongers, John M. Opitz, Alan Fryer, Pierre Sarda, Raoul C.M. Hennekam, Brian D. Hall, Duane W. Superneau, Madeline Harbison, Alexis Poss, Ben C.J. Hamel

Research output: Contribution to journalArticlepeer-review

60 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)115-124
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume102
Issue number2
DOIs
StatePublished - 1 Aug 2001
Externally publishedYes

Keywords

  • Ear
  • Meier-Gorlin syndrome
  • Microtia
  • Patella
  • Patellar aplasia/hypoplasia
  • Short stature
  • Short stature syndrome

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