RENAL TUBULAR LEAKAGE COMPLICATING MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM

Authors
EASON J HALL CM TROUNCE JQ
Citation
J. Eason et al., RENAL TUBULAR LEAKAGE COMPLICATING MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, Journal of Medical Genetics, 32(3), 1995, pp. 234-235
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
3
Year of publication
1995
Pages
234 - 235
Database
ISI
SICI code
0022-2593(1995)32:3<234:RTLCMO>2.0.ZU;2-3
Abstract
We describe a male infant with phenotypic and radiological features of microcephalic osteodysplastic primordial dwarfism type I/III. He show ed severe osteoporosis and biochemical derangement owing to renal tubu lar leakage, which has not previously been reported in this condition. He died aged 5 months.