A second patient with MCA/MR syndrome with multiple circumferential skin creases


  • N.J. Leonard

    Corresponding author
    1. Edmonton Genetics Clinic, Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
    • 853 Medical Sciences Building, University of Alberta Hospital, Edmonton, AB, Canada T6G 2H7.
    Search for more papers by this author


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.