Abstract
This paper discusses a family presenting with features of Coffin-Lowry syndrome, namely abnormal facies, skeletal abnormalities and mental handicap. Two of the mildly affected females had psychotic illness with predominant depressive features, and all the severely affected males had profound sensorineural deafness.
MeSH terms
-
Abnormalities, Multiple / diagnosis
-
Abnormalities, Multiple / genetics*
-
Abnormalities, Multiple / psychology
-
Adult
-
Bone Diseases, Developmental / diagnosis
-
Bone Diseases, Developmental / genetics*
-
Bone Diseases, Developmental / psychology
-
Female
-
Genetic Carrier Screening
-
Humans
-
Intellectual Disability / diagnosis
-
Intellectual Disability / genetics*
-
Intellectual Disability / psychology
-
Male
-
Neurocognitive Disorders / diagnosis
-
Neurocognitive Disorders / genetics*
-
Neurocognitive Disorders / psychology
-
Pedigree
-
Puerperal Disorders / diagnosis
-
Puerperal Disorders / genetics
-
Puerperal Disorders / psychology
-
Sex Chromosome Aberrations / genetics
-
Syndrome
-
X Chromosome