Two Japanese cases with microcephalic primordial dwarfism: Classical seckel syndrome and osteodysplastic primordial dwarfism type II
نویسندگان
چکیده
منابع مشابه
Microcephalic 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 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 کاملRenal 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 کاملExpanding the genetics of microcephalic primordial dwarfism
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متن کاملTwo novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1
Department of Clinical Genetics, H.C. Andersen Children’s Hospital, Odense University Hospital, Odense, Denmark, MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, University of Southampton, Southampton, UK and Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand Correspondence to Anne B. Krøigård,...
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ژورنال
عنوان ژورنال: Japanese journal of human genetics
سال: 1993
ISSN: 0021-5074
DOI: 10.1007/bf01883712