How to cite this article: Lehalle D, Williams C, Siu V M, Clayton-Smith J. 2011. Fetal Pads as a Clue to the Diagnosis of Pitt–Hopkins Syndrome. Am J Med Genet Part A 155:1685–1689.
Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome†
Article first published online: 10 JUN 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 7, pages 1685–1689, July 2011
How to Cite
Lehalle, D., Williams, C., Siu, V. M. and Clayton-Smith, J. (2011), Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome. Am. J. Med. Genet., 155: 1685–1689. doi: 10.1002/ajmg.a.34055
- Issue published online: 22 JUN 2011
- Article first published online: 10 JUN 2011
- Manuscript Accepted: 25 MAR 2011
- Manuscript Received: 16 FEB 2011
- Pitt–Hopkins syndrome;
- fetal pads;
- volar pads
Pitt–Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat–Wilson syndromes. We have observed prominent fetal pads as a feature in several individuals with PHS and suggested that this is a useful clinical sign which helps to distinguish PHS from other conditions in the differential diagnosis and may guide genetic testing. © 2011 Wiley-Liss, Inc.