Case presentation:Langer′s type mesomelic dysplasia
نویسندگان
چکیده
منابع مشابه
Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?
BACKGROUND We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. METHODS Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschond...
متن کاملCASE REPORT Dentin dysplasia type I
To cite: Singh A, Gupta S, Yuwanati MB, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013009403 SUMMARY Dentin dysplasia type I is a rare hereditary disturbance of dentin formation characterised clinically by nearly normal appearing crowns and hypermobility of teeth that affects one in every 100 000 individuals and manifests in both primary and permanent...
متن کاملSpondylometaphyseal dysplasia (Kozlowski type): case report.
Kozlowski syndrome is the most common type of spondylometaphyseal dysplasia (SMD). It is characterized by short stature (130 to 150 cm), pectus carinatum, limited elbow and hip movement, mild bowleg deformity, and curvature of the spinal column. Children with Kozlowski dwarfism usually are not recognized at birth, since they have normal clinical features, weight, and size. This article reports ...
متن کاملDentin dysplasia type I--a case report.
A case report on dentin dysplasia type I, a congenital disease (autosomal dominant gene defect) affecting deciduous and permanent teeth, is depicted including representations of clinical and histological features, X-ray and CT-findings. Therapy includes extraction of all teeth, ectomization of cystic alteration, revision of paranasal sinus. Aesthetic and functional rehabilitation by means of in...
متن کاملSpondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.
A newborn girl is described with an association of spondylo-acrodysplasia, mild short limbed dwarfism without significant metaphyseal changes, joint dislocations, and severe immune system dysfunction. This association is distinct from other known immuno-osseous dysplasias, including Schimke dysplasia, ADA deficiency with osseous changes, and Omenn phenotype with short limbed dwarfism.
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ژورنال
عنوان ژورنال: Indian Journal of Radiology and Imaging
سال: 2006
ISSN: 0971-3026
DOI: 10.4103/0971-3026.32276