Robin Sequence With Distinctive Facial Appearance And Brachydactyly

Gurrieri et al. (2001) reported a brother and sister with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. Gurrieri et al. (2004) observed 2 unrelated patients with similar features, including the same facial appearance, Robin sequence, and brachydactyly.