Phenotypic variability of mannosidosis type II: report of two Greek siblings.
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.
Michelakakis
H
H
Department of Enzymology and Cell Function, P. & A. Kyriakou Children's Hospital, Athens, Greece.
Dimitriou
E
E
Mylona-Karayanni
C
C
Bartsocas
C S
CS
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008159:Lumbar Vertebrae / Q000002:abnormalities; D008297:Male; D008361:Mannosidases / Q000172:deficiency; D010641:Phenotype; D013168:Spondylolisthesis / Q000175:diagnosis / Q000235:genetics; D043323:alpha-Mannosidase; D008363:alpha-Mannosidosis / Q000175:diagnosis / Q000235:genetics*
D008361:Mannosidases; D043323:alpha-Mannosidase