Microcephalic (Majewski) Osteodysplastic Primordial Dwarfism Type Ii With Severe Hyperandrogenism
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...
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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 کاملMajewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient
Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The pat...
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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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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: AACE Clinical Case Reports
سال: 2017
ISSN: 2376-0605
DOI: 10.4158/ep161325.cr