Early recognition of the Coffin‐Lowry syndrome
- 1 January 1981
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 8 (2) , 215-220
- https://doi.org/10.1002/ajmg.1320080212
Abstract
We report a 2‐year‐old male infant with the Coffin‐Lowry syndrome, and describe the change in his clinical and radiographic manifestations during the first 2 years of life. Review of published cases of the Coffin‐Lowry syndrome indicates that these manifestations are progressive, and that all of the associated characteristics may not be apparent in early childhood. The importance of continued evaluations of these patients and examination of relatives for mild manifestations is emphasized.Keywords
This publication has 5 references indexed in Scilit:
- The Coffin syndromeHuman Genetics, 1977
- The Coffin-Lowry syndrome: An inherited faciodigital mental retardation syndromeThe Journal of Pediatrics, 1975
- Syndrome of facial abnormalities, kyphoscoliosis and severe mental retardationClinical Genetics, 1973
- A New Dominant Gene Mental Retardation SyndromeAmerican Journal of Diseases of Children, 1971
- RADIOGRAPHIC ATLAS OF SKELETAL DEVELOPMENT OF THE HAND AND WRISTThe Lancet Healthy Longevity, 1959