Oral-Facial-Digital Syndrome Type 1 With Hypothalamic Hamartoma and Dandy-Walker Malformation

• Published in: Pediatric neurology Vol. 48; no. 4; pp. 329 - 332
• Main Authors: Azukizawa, Takayuki, MD, Yamamoto, Masahito, MD, Narumiya, Seirou, MD, Takano, Tomoyuki, MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-04-2013
• Subjects: Case reports; Central nervous system; Cerebellum; Congenital defects; Corpus callosum; Cysts; Dandy-Walker Syndrome - complications; Dandy-Walker Syndrome - diagnosis; Female; Hamartoma - complications; Hamartoma - diagnosis; Humans; Hypothalamic Diseases - complications; Hypothalamic Diseases - diagnosis; Hypothalamus; Infant; Mutation; Neoplasia; Neurology; Oral cavity; Orofaciodigital Syndromes - complications; Orofaciodigital Syndromes - diagnosis; Pediatrics; subarachnoid space
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2012.12.016

Abstract We report a 1-year-old girl with oral-facial-digital syndrome type 1 with multiple malformations of the oral cavity, face, digits, and central nervous system, including agenesis of the corpus callosum, the presence of intracerebral cysts, and agenesis of the cerebellar vermis, which is associated with the subarachnoid space separating the medial sides of the cerebellar hemispheres. This child also had a hypothalamic hamartoma and a Dandy-Walker malformation, which have not been reported previously. The clinical features, including cerebral malformations, in several types of oral-facial-digital syndrome, overlap with each other. Further accumulation of new case reports and identification of new genetic mutations in oral-facial-digital syndrome may provide novel and important insights into the genetic mechanisms of this syndrome.