For proper genetic counseling, the clinical delineation of simply inherited mental retardation syndromes is essential. In the present study we describe the clinical and genetic characteristics of a syndrome that previously was thought to represent 2 distinct entities. Coffin et al described 2 unrelated mentally retarded males who had coarse facies, large soft hands, small stature and skeletal anomalies. Female relatives showed mild manifestations. Lowry et al described mental retardation in a family with 10 affected individuals in 3 generations where both males and females had small stature, characteristic facies and tapering fingers. These syndromes, supposedly distinct, had many overlapping features. The main difference was absence of severe skeletal changes in the cases described by Lowry et al. Subsequent reports of the syndrome described by Coffin et al emphasized the clinical features of the syndrome in males. In this communication we report a hereditary faciodigital syndrome affecting 8 members from 3 families. Mental retardation and skeletal involvement of varying degrees occurred and males were more severely affected than females. The clinical and genetic features in our cases suggest that the syndromes described by Coffin et al and by Lowry et al are one and the same. Therefore, we suggest the eponym Coffin Lowry syndrome to designate this disorder. One of the main objectives of this study was to define the phenotype in affected females. New findings in the cases that we studied were in the mouth, teeth, skeleton and dermatoglyphics. Clinical and histopathologic findings suggest that the Coffin Lowry syndrome is a heritable disorder of connective tissue.
|Original language||English (US)|
|Number of pages||20|
|Journal||Birth Defects: Original Article Series|
|State||Published - Dec 1 1975|
ASJC Scopus subject areas
- Developmental Biology