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J Med Genet 37:719-721 doi:10.1136/jmg.37.9.719
  • Letters to the editor

Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?

  1. P A TERHAL*,
  2. M G E M AUSEMS*,
  3. Y VAN BEVER,
  4. L P TEN KATE,
  5. P F DIJKSTRA,
  6. G M C KUIJPERS§
  1. *Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
  2. †Department of Clinical Genetics and Human Genetics, Academic Hospital, Free University, Amsterdam, The Netherlands
  3. ‡Department of Radiology, Jan van Breemen Institute, Amsterdam, The Netherlands
  4. §Department of Pediatric Endocrinology, University Medical Centre Utrecht, Utrecht, The Netherlands
  1. Dr Terhal, P.A.Terhal{at}dmg.azu.nl

    Editor—The ear, patella, short stature syndrome (EPS or Meier-Gorlin syndrome) is a rare disorder characterised by microtia, absent or hypoplastic patellae, and proportionate pre- and postnatal growth retardation. In 1994, published reports of the disorder were reviewed by Boles et al.1 To date, over 17 patients have been described.1-5 Inheritance is autosomal recessive as evidenced by an almost equal number of male and female patients, as well as affected sibs, occurrence of consanguineous matings, and the absence of clinical abnormalities in the parents. Here, we describe two unrelated patients with the EPS syndrome and breast hypoplasia. This is a hitherto unreported finding that may be a part of the syndrome in adult females. Furthermore, the disproportionate short stature which was present in our patients may be a skeletal manifestation of the EPS syndrome.

    Patient 1 was the first child of non-consanguineous parents. Clitoral hypertrophy and hypoplastic labia minora were noted after birth. She was referred at the age of 14 years because of dysmorphic features and delayed breast …