Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.
نویسندگان
چکیده
منابع مشابه
Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.
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.
متن کاملMicrocephalic osteodysplastic primordial dwarfism type I/III in sibs.
The clinical and radiological findings in a pair of sibs with microcephalic osteodysplastic primordial dwarfism (MOPD) are described, a boy who survived for 5 1/2 years and his more severely affected younger sister, who died at the age of 6 months. Neuropathological studies in this girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes and absent corpus callosu...
متن کاملMicrocephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review
PURPOSE OF THE REVIEW This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII). RECENT FINDINGS Over the last 15 years, significant strides have been made in the diagnosis, natura...
متن کاملExpanding the genetics of microcephalic primordial dwarfism
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متن کاملNeonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the l...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1995
ISSN: 1468-6244
DOI: 10.1136/jmg.32.3.234