title: Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly.
abstract: A case of Coffin-Lowry syndrome is described. The child had the typical face and also soft and puffy hands with tapering fingers. His psychomotor development was retarded. Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones. It is inferred that deafness is one of the symptoms of this syndrome.
authors.affiliation: Department of Otolaryngology, School of Medicine, Akita University, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Higashi
authors.forename: C
authors.initials: C
authors.lastname: Matsuki
mesh_terms: D007758:Ear, Inner / Q000002:abnormalities*; D005149:Facial Expression; D008040:Genetic Linkage; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000150:complications*; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D011859:Radiography; D013577:Syndrome; D013701:Temporal Bone / Q000000981:diagnostic imaging; D014960:X Chromosome