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 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.
متن کاملBreakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia.
Mesomelic dysplasia (MD) is characterised by mildly short stature and shortening of the middle segments of the limbs. There are several subtypes of MD including dyschondrosteosis (Leri-Weill type), Langer type, Nivergelt type, Robinow type, Reinhardt type, Kozlowski-Reardon type, Werner type, and mesomelic dysplasia with synostoses. Ventruto et al reported an Italian family in which four member...
متن کاملOrofaciodigital syndrome with mesomelic limb shortening.
Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles, but is distinct from, the orofaciodigital syndromes delineated to date. We suggest that this cond...
متن کاملWerner Syndrome
Werner Syndrome (WS) is an autosomal recessive disease that leads to the premature manifestation of clinical symptoms associated with normal aging. Clinical symptoms include: short stature, graying/loss of hair, osteoporosis, cataracts, atherosclerosis, type II diabetes, hypogonadism, skin ulcers, reduced fertility, and high incidence of malignant neoplasms. They appear in one’s 20’s and 30’s, ...
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ژورنال
عنوان ژورنال: Pediatric Traumatology, Orthopaedics and Reconstructive Surgery
سال: 2018
ISSN: 2410-8731,2309-3994
DOI: 10.17816/ptors6492-97