title: Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus.
abstract: We report a sporadic case of Lenz-Majewski syndrome (LMS) with newly recognized manifestations including facial palsy, cleft palate and hydrocephalus developing later in infancy. The clinical course of the patient and neuroimaging studies are described. Increased intracranial pressure was recognized and treated early with the aim of preventing neurological morbidity.
authors.affiliation: Department of Pediatrics Department of Radiology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Duangrurdee
authors.initials: D
authors.lastname: Wattanasirichaigoon
authors.forename: Anannit
authors.initials: A
authors.lastname: Visudtibhan
authors.forename: Suphaneewan
authors.initials: S
authors.lastname: Jaovisidha
authors.forename: Jiraporn
authors.initials: J
authors.lastname: Laothamatas
authors.forename: Amornsri
authors.initials: A
authors.lastname: Chunharas
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis*; D005158:Facial Paralysis / Q000175:diagnosis*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D009422:Nervous System Diseases / Q000175:diagnosis / Q000473:pathology; D010641:Phenotype; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed