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Keywords:

  • circumferential skin creases;
  • microcephaly;
  • microphthalmia;
  • cleft palate;
  • ear anomaly;
  • developmental delay

Abstract

Symmetrical congenital circumferential skin creases are a rare feature described in only a few conditions. We report a case of a 29-month-old boy with symmetrical circumferential skin creases on arms, legs, and digits, and other features reminiscent of the single case reported by Cohen et al. [1993: Clin Dysmorphol 2:39–46] and reviewed by Elliott et al. [1996: Am J Med Genet 62:23–25]. The key features also include epicanthic folds, microphthalmia, microcornea, microcephaly, small, low-set posteriorly angulated ears with thick overfolded helices, cleft palate, and moderate–severe psychomotor developmental delay. © 2002 Wiley-Liss, Inc.