A second patient with MCA/MR syndrome with multiple circumferential skin creases.
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.
Leonard
N J
NJ
Edmonton Genetics Clinic, Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. nleonard@cha.ab.ca
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D012868:Skin Abnormalities / Q000175:diagnosis*