A Familial Case of Saethre-Chotzen Syndrome in Japan

Saethre-Chotzen syndrome is extremely rare in Japan. We experienced a familial case of Saethre-Chotzen syndrome in 4 individuals of 3 generations. In all 4 individuals, a mutation in the TWIST gene was observed by a gene test. Some of these patients underwent surgical correction of brachycephaly and blepharoptosis with good results.
Source: Neurosurgery Quarterly - Category: Neurosurgery Tags: Case Reports Source Type: research