Article
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
Pediatric neurology - 1 Dec 2014
Caglayan Ahmet Okay, Baranoski Jacob F, Aktar Fesih, Han Wengi, Tuysuz Beyhan, Guzel Aslan, Guclu Bulent, Kaymakcalan Hande, Aktekin Berrin, Akgumus Gozde Tugce, Murray Phillip B, Erson-Omay Emine Z, Caglar Caner, Bakircioglu Mehmet, Sakalar Yildirim Bayezit, Guzel Ebru, Demir Nihat, Tuncer Oguz, Senturk Senem, Ekici Baris, Minja Frank J, Šestan Nenad, Yasuno Katsuhito, Bilguvar Kaya, Caksen Huseyin, Gunel Murat
Abstract excerpt
BACKGROUND: Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, and cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a...
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