title: [Neuhauser syndrome: the facial dysmorphic phenotype].
abstract: Neuhauser syndrome is an extremely rare genetic disease, most cases are sporadic by spontaneous mutation, but there are cases of autosomal recessive genetic transmission; the specific cause is unknown and has no diagnostic test. The disease is clinically characterized by primary megalocornea, congenital hypotonia, mental retardation of varying degree and delayed psychomotor development. The diagnosis in childhood is usually performed by oculo-neurological criteria. The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial wide, thin elongated mouth, big and protuded ear "cup", jaw undersized (micrognathia) and abnormal posterior positioning of the mandible (retrognathia).The use of facial dysmorphism helps to delineate the phenotype and achieve the punctuation required for the diagnosis, allowing early management and prevention of complications.
authors.affiliation: Servicio de Dismorfología Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México. avinafie@megared.net.mx.
authors.forename: Jorge Arturo
authors.initials: JA
authors.lastname: Aviña-Fierro
authors.forename: Daniel Alejandro
authors.initials: DA
authors.lastname: Hernández-Aviña
mesh_terms: D002547:Cerebral Palsy / Q000175:diagnosis*; D003316:Corneal Diseases / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D058627:Megalencephaly / Q000175:diagnosis*; D010641:Phenotype
keywords: Craniofacial abnormalities; Phenotype