Halder, Ashutosh ; Pahi, J. ; Sharma, Anita K. ; Bhatia, V. L. ; Phadke, R. V. ; Gujral, R. ; Agarwal, S. S. (1998) Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination American Journal of Medical Genetics, 80 (1). pp. 12-15. ISSN 0148-7299
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Official URL: http://www3.interscience.wiley.com/journal/1000432...
Related URL: http://dx.doi.org/10.1002/(SICI)1096-8628(19981102)80:1<12::AID-AJMG3>3.0.CO;2-C
Abstract
We describe a 7-year-boy with severe prenatal and postnatal growth retardation, skeletal changes, normal intellect, and unusual facial appearance. The skeletal changes are suggestive of osteodysplastic primordial dwarfism type II (OPD II). He is the first patient of this kind from the Indian subcontinent and the 18th to be reported, based on a literature search (MEDLINE; 1982 to April 1997). He also represents the first case of OPD-II with normal intellect but delayed central nervous system myelination.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to John Wiley and Sons, Inc. |
| Keywords: | Osteodysplastic Primordial Dwarfism Type II; Normal Intellect; Delayed Central Nervous System Myelination |
| ID Code: | 164 |
| Deposited On: | 17 Sep 2010 08:31 |
| Last Modified: | 12 May 2011 03:44 |
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