منابع مشابه
Microcephalic 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 کاملDiastrophic dwarfism.
Diastrophic dwarfism is an unusual variety of short-limb dwarfism characterized by the pathognomic triad of ear calcifications, hitch-hiker thumbs, and severe clubfoot. Other clinical features include joint contractures and subluxations, symphalagism of the fingers, kyphoscoliosis, hip dysplasia, and occasional cleft palate. Radiographic findings include flaring of the metaphyses of tubular bon...
متن کاملConstructive Examination of a Russell-style Ramified Type Theory
In this paper we examine the natural interpretation of a ramified type hierarchy into Martin-Löf type theory with an infinite sequence of universes. It is shown that under this predicative interpretation some useful special cases of Russell’s reducibility axiom are valid, namely functional reducibility. This is sufficient to make the type hierarchy usable for development of constructive mathema...
متن کاملThanatophoric dwarfism.
A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, the very small size of the thorax and, particularly, the very narrow ossified elements of the vertebral bodies. Perhaps the m...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1959
ISSN: 0035-9157
DOI: 10.1177/003591575905200425