Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly

K Higashi; C Matsuki

doi:10.1017/s002221510012612x

Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly

J Laryngol Otol. 1994 Feb;108(2):147-8. doi: 10.1017/s002221510012612x.

Authors

K Higashi¹, C Matsuki

Affiliation

¹ Department of Otolaryngology, School of Medicine, Akita University, Japan.

PMID: 8163917
DOI: 10.1017/s002221510012612x

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.

Publication types

Case Reports

MeSH terms

Ear, Inner / abnormalities*
Facial Expression
Genetic Linkage
Hand / diagnostic imaging
Hand Deformities, Congenital / complications*
Hearing Loss, Sensorineural / complications*
Hearing Loss, Sensorineural / genetics
Humans
Infant
Intellectual Disability / complications*
Male
Radiography
Syndrome
Temporal Bone / diagnostic imaging
X Chromosome