Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 132A, Issue 2, Pages 226-230Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.30423
Keywords
Fryns syndrome; Hirschsprung disease; polyhydramnios; megaureter; neural crest; neurocristopathy; congenital diaphragmatic hernia
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Fryns syndrome is an autosomal recessive multiple congenital anomaly/mental retardation syndrome characterized by coarse face, distal limb hypoplasia, and diaphragmatic anomalies. We describe a newborn girl with Fryns syndrome and Hirschsprung disease, an association that has been reported in five previous cases. These patients support the hypothesis that the neural crest plays a role in the pathogenesis of Fryns syndrome. Clinically asymptomatic or subtle anomalies that are in the spectrum of neural crest maldevelopment should be sought in all patients with Fryns syndrome including stillbirths, neonatal deaths, as well as long-term survivors. We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes. (C) 2004 Wiley-Liss, Inc.
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