A second patient with MCA/MR syndrome with multiple circumferential skin creases
- 26 June 2002
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 112 (1) , 91-94
- https://doi.org/10.1002/ajmg.10665
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.Keywords
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