1. Phenotypic variability of mannosidosis type II: report of two Greek siblings.
- Author
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Michelakakis H, Dimitriou E, Mylona-Karayanni C, and Bartsocas CS
- Subjects
- Adolescent, Adult, Female, Humans, Intellectual Disability diagnosis, Lumbar Vertebrae abnormalities, Male, Mannosidases deficiency, Spondylolisthesis diagnosis, Spondylolisthesis genetics, alpha-Mannosidase, alpha-Mannosidosis diagnosis, Intellectual Disability genetics, Phenotype, alpha-Mannosidosis genetics
- Abstract
Two patients, a 13-year-old boy and his 24-year-old sister, were diagnosed as mannosidosis type II cases, on the basis of both presenting extremely reduced plasma and white blood cell acid-alpha-mannosidase are reported. With the exception of mental retardation and neurosensory deafness the two siblings manifested a wide phenotypic variability. The boy had several facial features indicating a lysosomal storage disorder, as well as spondylolisthesis. His sister, apart from heavy eyebrows and lower jaw prognathism appeared normal.
- Published
- 1992