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:...

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Veröffentlicht in:American journal of medical genetics 2002-09, Vol.112 (1), p.91-94
1. Verfasser: Leonard, N.J.
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.10665