Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature

✍ Scribed by Manu S. Raam; Benjamin D. Solomon; Stavit A. Shalev; Maximilian Muenke

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 191 KB
• Volume: 154C
• Category: Article
• ISSN: 1552-4868
• DOI: 10.1002/ajmg.c.30234

✦ Synopsis

Abstract

Holoprosencephaly (HPE) and craniosynostosis are separate conditions that have occasionally been observed to occur simultaneously in the same patient. Here, we compile patients with both conditions who have been documented in the literature thus far; moreover, we report on two additional siblings who have not been previously described. We also compare the clinical features of these patients and discuss the previously hypothesized possibility of an independent association including both HPE and craniosynostosis. Published 2010 Wiley‐Liss, Inc.