Baraitser-Winter Syndrome (cerebro-frontofacial syndrome, type 3) is a rare developmental disorder typified by hypertelorism, ptosis, high arched eyebrows, ocular coloboma and brain malformations including lissencephaly. Other common manifestations include hearing loss, short stature, seizures, intellectual impairment and abnormalities of the kidney and urinary system. This syndrome is caused by missense mutations in the genes ACTB or ACTG1, both of which encode for cytoplasmic actin proteins crucial for proper development of many organs in the human body. We have identified a three generation pedigree segregating a novel mutation in the ACTG1 gene that leads to Baraitser-Winter Syndrome when fully expressed and isolated hearing loss when incompletely expressed.

No abstract