A second patient with MCA/MR syndrome with multiple circumferential skin creases
Article first published online: 26 JUN 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 112, Issue 1, pages 91–94, 15 September 2002
How to Cite
Leonard, N.J. (2002), A second patient with MCA/MR syndrome with multiple circumferential skin creases. Am. J. Med. Genet., 112: 91–94. doi: 10.1002/ajmg.10665
- Issue published online: 26 AUG 2002
- Article first published online: 26 JUN 2002
- Manuscript Accepted: 20 APR 2002
- Manuscript Received: 23 JUL 2001
- circumferential skin creases;
- cleft palate;
- ear anomaly;
- developmental delay
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.