Article
[Restrictive dermopathy: a rare, lethal genodermatosis].
Nederlands tijdschrift voor geneeskunde - 10 Sept 2005
Straver B, Koopmans A K, van Hagen J M, Fetter W P F
Abstract excerpt
In a premature male infant born of consanguineous parents, restrictive dermopathy was diagnosed. This is a rarely described, lethal, congenital skin disease. The diagnosis was based on the clinical and histopathological findings: a fixed facial expression (so-called 'porcelain face') with palpebral fissures inclined laterally downwards, microstomia with the mouth in the 'O'-position, micrognathia and low-set ears...
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