Restrictive dermopathy: case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes

American Journal of Perinatology
C SergiO Linderkamp

Abstract

We report on a 34-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency. Kaplan-Meier analysis of 32 previously well-described infants affected with RD showed a median survival of 132 hours. Lethal congenital contractural syndromes, including Pena-Shokeir phenotype, cerebro-oculo facio-skeletal syndrome, and lethal multiple pterygium syndrome, should be considered first in the differential diagnosis. Other lethal contractural syndromes are discussed.

Citations

May 13, 2008·Archives of Gynecology and Obstetrics·Marc ThillChristian Jackisch
Aug 17, 2006·Fetal Diagnosis and Therapy·Munire GundoganDavid Chitayat
Jan 18, 2006·American Journal of Medical Genetics. Part a·M L KulkarniM Kulkarni Preethi
Jun 24, 2008·Fetal and Pediatric Pathology·Pawini KhannaEnid Gilbert-Barness
Oct 15, 2021·Pediatric Dermatology·Jennifer B ScottAnthony J Mancini

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