Fine-Lubinsky Syndrome
摘要
The Fine-Lubinsky syndrome is a multisystem disorder caused by mutations in the MAF gene (Niceta et al. 2015). The first discovery of this syndrome was reported in 1983 by Drs. Fine and Lubinsky, and since then, several case reports have published patients with this syndrome (Aymé and Philip 1996). In 1996, Fine-Lubinsky syndrome was suggested by Ayme and Philip as a name for this patient group (Gripp et al. 1996). The obscure symptoms of this syndrome include craniofacial abnormalities, bilateral hearing loss, cataracts, microstomy (small mouth), central nervous system abnormalities, and psychomotor delay. Exceptions include brachydactyly, camptodactyly, and primary teeth malformed dentition (Holder et al. 2007).