منابع مشابه
Osteoglophonic dysplasia: a case report.
We report a rare case of osteoglophonic dysplasia affecting father and daughter. Osteoglophonic dysplasia is a very rare skeletal dysplasia with craniosynostosis, multiple radiolucencies of bone and clinical anodontia. It is an autosomal dominant disorder characterised by short stature. The affected children have normal intelligence. Close association with missense mutation of fibroblast growth...
متن کاملMutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
Activating mutations in the genes for fibroblast growth factor receptors 1-3 (FGFR1-3) are responsible for a diverse group of skeletal disorders. In general, mutations in FGFR1 and FGFR2 cause the majority of syndromes involving craniosynostosis, whereas the dwarfing syndromes are largely associated with FGFR3 mutations. Osteoglophonic dysplasia (OD) is a "crossover" disorder that has skeletal ...
متن کاملOsteoglophonic dwarfism in two generations.
A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.
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 ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1990
ISSN: 1468-6244
DOI: 10.1136/jmg.27.3.213