RENAL TUBULAR LEAKAGE COMPLICATING MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM

被引：6

作者：

EASON, J

HALL, CM

TROUNCE, JQ

机构：

[1] ROYAL ALEXANDRA HOSP SICK CHILDREN,DEPT PAEDIAT,BRIGHTON BN1 3JN,E SUSSEX,ENGLAND

[2] HOSP SICK CHILDREN,DEPT RADIOL,LONDON WC1N 3JH,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 03期

关键词：

D O I：

10.1136/jmg.32.3.234

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a male infant with phenotypic and radiological features of microcephalic osteodysplastic primordial dwarfism type I/III. He showed severe osteoporosis and biochemical derangement owing to renal tubular leakage, which has not previously been reported in this condition. He died aged 5 months.

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页码：234 / 235

页数：2

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