II型骨发育不全性原发性侏儒症，智力正常但中枢神经系统髓鞘形成延迟。

Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination.

作者信息

Halder A, Pahi J, Sharma A K, Bhatia V L, Phadke R V, Gujral R, Agarwal S S

机构信息

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

出版信息

Am J Med Genet. 1998 Oct 30;80(1):12-5. doi: 10.1002/(sici)1096-8628(19981102)80:1<12::aid-ajmg3>3.0.co;2-c.

DOI:10.1002/(sici)1096-8628(19981102)80:1<12::aid-ajmg3>3.0.co;2-c

PMID:9800906

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.

摘要

我们描述了一名7岁男孩，他出生前后均有严重生长发育迟缓、骨骼改变、智力正常但面部外观异常。骨骼改变提示为II型骨发育异常原发性侏儒症（OPD II）。根据文献检索（MEDLINE；1982年至1997年4月），他是来自印度次大陆的首例此类患者，也是第18例报道的患者。他还代表了首例智力正常但中枢神经系统髓鞘形成延迟的OPD-II病例。