Multiple accessory tragi as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome

Fetal pads as a clue to the diagnosis of

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

✍ Daphne Lehalle; Charles Williams; Victoria Mok Siu; Jill Clayton-Smith 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 309 KB

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 ov