title: Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?
abstract: We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.
authors.affiliation: Department of Pediatrics, Faculty of Medicine Karadeniz Technical University, Trabzon, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Okten
authors.forename: L
authors.initials: L
authors.lastname: Mungan
authors.forename: F
authors.initials: F
authors.lastname: Orhan
authors.forename: M
authors.initials: M
authors.lastname: Cakir
mesh_terms: D001927:Brain Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D014644:Genetic Variation / Q000235:genetics*; D006222:Hamartoma / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D007031:Hypothalamus / Q000473:pathology; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009958:Orofaciodigital Syndromes / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D017689:Polydactyly / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed