Santos syndrome is a novel syndrome characterized by fibular agenesis/hypoplasia, clubfeet with severe oligodactyly, and ungual hypoplasia/anonychia. It has been reported that mutations in WNT7A cause this syndrome. The WNT7A protein induces the local expression of LMX-1B, which is responsible for the development of dorsal structures. WNT7A also plays a role in the maintenance of SHH expression in zone of polarizing activity.
Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA
タイトル
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.
