American Journal of Medical Genetics 2:267-273 (1978)
Mental Retardation and Osteosclerosis Alasdair G. W. Hunter and Roderick 1. Macpherson Departments of Radiology and Pediatrics, Health Sciences Centre, Winnipeg, Manitoba Canada
We report a girl with profound mental retardation who, at 3 years of age, began to show a progressive osteosclerosis on bone roentgenograms. The bony changes were slightly suggestive of osteopetrosis from which they differed by a number of unusual features. Key words: mental retardation, osteosclerosis, hyperostosis, craniotubular dysplasia
I NT R 0 D UCT I0 N
A girl with profound mental retardation and a generalized bone disorder characterized by osteosclerosis superficially resembling osteopetrosis is reported. The association of osteosclerosis and severe mental retardation has only been described once before in two patients somewhat different from ours [Funderbunk, 19751 . The precise diagnosis in our patient remains debatable.
REPORT OF PATIENT
This girl was born at term weighing 2,9 15 gm after a pregnancy in which the mother complained of fatigue and weakness from the second through the fourth month. The delivery was normal and there were no perinatal problems. Her parents were of Ukrainian ancestry, healthy, unrelated, and in their early thirties. Four siblings were normal and there was no family history of mental retardation. Developmental delay was noted by 3-4 months after birth, and at 20 years she was profoundly retarded, lacking head control, ambulation, toilet training, and vocalization. Her appearance was reported to be normal until 3 years when the progressively deforming cranial, facial, and skeletal changes of the underlying bone disorder became apparent.
Received for publication February 21, 1978; revision received April 12, 1978. Address reprint requests to Alasdair Hunter, MD, Div of Genetics, Health Sciences Centre, 7 0 0 William Ave, Winnipeg, Manitoba, Canada R3E 023.
0148-7299/78/0203-0267$01.70@ 1978 Alan R. Liss, Inc
268
Hunter and Macpherson
On examination at 18 years (Fig 1) she had a length of 128.5 cm (
Mental Retardation and Osteosclerosis Alasdair G. W. Hunter and Roderick 1. Macpherson Departments of Radiology and Pediatrics, Health Sciences Centre, Winnipeg, Manitoba Canada
We report a girl with profound mental retardation who, at 3 years of age, began to show a progressive osteosclerosis on bone roentgenograms. The bony changes were slightly suggestive of osteopetrosis from which they differed by a number of unusual features. Key words: mental retardation, osteosclerosis, hyperostosis, craniotubular dysplasia
I NT R 0 D UCT I0 N
A girl with profound mental retardation and a generalized bone disorder characterized by osteosclerosis superficially resembling osteopetrosis is reported. The association of osteosclerosis and severe mental retardation has only been described once before in two patients somewhat different from ours [Funderbunk, 19751 . The precise diagnosis in our patient remains debatable.
REPORT OF PATIENT
This girl was born at term weighing 2,9 15 gm after a pregnancy in which the mother complained of fatigue and weakness from the second through the fourth month. The delivery was normal and there were no perinatal problems. Her parents were of Ukrainian ancestry, healthy, unrelated, and in their early thirties. Four siblings were normal and there was no family history of mental retardation. Developmental delay was noted by 3-4 months after birth, and at 20 years she was profoundly retarded, lacking head control, ambulation, toilet training, and vocalization. Her appearance was reported to be normal until 3 years when the progressively deforming cranial, facial, and skeletal changes of the underlying bone disorder became apparent.
Received for publication February 21, 1978; revision received April 12, 1978. Address reprint requests to Alasdair Hunter, MD, Div of Genetics, Health Sciences Centre, 7 0 0 William Ave, Winnipeg, Manitoba, Canada R3E 023.
0148-7299/78/0203-0267$01.70@ 1978 Alan R. Liss, Inc
268
Hunter and Macpherson
On examination at 18 years (Fig 1) she had a length of 128.5 cm (
