Eur J Med Genet 2017 Jan 23. Epub 2017 Jan 23.
National Maternity Hospital, Holles St., Dublin, D02 YH21, Ireland; Children's University Hospital, Temple Street, Dublin, D01 YC67, Ireland. Electronic address:
Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum. Herein, we present an infant girl with Pai Syndrome diagnosed in the first week of life with typical facial findings and associated pericallosal lipoma identified on cranial ultrasound and brain MRI. These typical features identified included median cleft of the upper lip (in her case as a forme fruste) with a cleft alveolus and a mid-anterior alveolar process congenital polyp. Read More