Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome

✍ Scribed by Daphne Lehalle; Charles Williams; Victoria Mok Siu; Jill Clayton-Smith

• Publisher: John Wiley and Sons
• Year: 2011
• Tongue: English
• Weight: 309 KB
• Volume: 155
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.34055

✦ Synopsis

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.