منابع مشابه
Kyphomelic dysplasia in two sib fetuses.
We present the in utero appearances and postmortem radiographic findings of two sib fetuses, a male and a female, with features suggestive of kyphomelic dysplasia. The fetuses had severe bowing of the long bones, short, flared ribs, platyspondyly, metaphyseal flaring, skin dimpling, with normal external genitalia and karyotypes and a normal pregnancy. They were born to a mother with features of...
متن کاملKyphomelic dysplasia: the first 10 cases.
We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, irregular, flared metaphyses, restricted joint mobility, a small thorax and short trunk, a normal cranium and psychomotor development, and a tendenc...
متن کاملCraniofacial Fibrous Dysplasia
Fibrous dysplasia (FD) is an osseous growth dis-order, producing immature bone and characte-rized by the replacement of normal bone with fibro-osseous connective tissue. It is a bone dys-plasia that has the potential to cause significant cosmetic and functional disturbances, particularly in the craniofacial skeleton. Cra-niofacial fibrous dysplasia is one of the three types of polyostotic fibro...
متن کاملDentin Dysplasia: ARare Case Report
Introduction: Dentin Dysplasia is one of the rare hereditary diseases that the enamel is normal, but it also affects the dentin and the shape of the tooth pulp. Due to the low prevalence of this disease, a case of dentin dysplasia with the classical and atypical dentin dysplasia type 1 is presented. Case presentation:A 11-year-old girl with the mobility of lower central teeth that has severe ...
متن کاملLETTER TO JMG Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene
K yphomelic dysplasia has been described as a generalised skeletal dysplasia characterised by a disproportionate growth, bowing of long bones, mild facial dysmorphia, and normal intelligence, with radiologically flattened vertebrae, short ribs, and metaphyseal flaring. Twenty-one cases have been reported in the literature. However the diagnosis in several cases from the literature has been disp...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1994
ISSN: 1468-6244
DOI: 10.1136/jmg.31.5.423-a