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 |
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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. |
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ISSN: | 0148-7299 1096-8628 |
DOI: | 10.1002/ajmg.10665 |