We report a boy with SHORT syndrome with distinctive radiographic features, comprising large epiphyses, gracile diaphyses and coned epiphyses, and demonstrate the evolution of the facies from the neonatal period to 9.5 years of age
Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a ''happ...
Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized b...
Basal encephaloceles are rare, accounting for about 1.5 % of all encephaloceles. Transsphenoidal enc...
delineation and natural history The sixth reported case of the SHORT syndrome is described and is co...
Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of ...
We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common charac...
Abstract Background SHORT syndrome is a rare genetic congenital defects condition. The frequency of ...
Thanatophoric dwarfism is a severe form of neonatal shortlimbed skeletal dysplasia. Most infants are...
International audienceSHORT syndrome has historically been defined by its acronym: short stature (S)...
We present the clinical and radiological findings in a newborn male with severe micromelic dwarfism,...
A new association of congenital familial short stature with facial dysmorphism and osteochondrodyspl...
Abstract Background Short stature (SS) is a relatively early sign of poor health. Only in 5% of case...
Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied clinically and radiogr...
We present a metabolic disorder with main complaints of unresolving short stature following prolonge...
A case of congenital short gut is reported in a 4-month-old boy presenting with failure to thrive. U...
Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a ''happ...
Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized b...
Basal encephaloceles are rare, accounting for about 1.5 % of all encephaloceles. Transsphenoidal enc...
delineation and natural history The sixth reported case of the SHORT syndrome is described and is co...
Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of ...
We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common charac...
Abstract Background SHORT syndrome is a rare genetic congenital defects condition. The frequency of ...
Thanatophoric dwarfism is a severe form of neonatal shortlimbed skeletal dysplasia. Most infants are...
International audienceSHORT syndrome has historically been defined by its acronym: short stature (S)...
We present the clinical and radiological findings in a newborn male with severe micromelic dwarfism,...
A new association of congenital familial short stature with facial dysmorphism and osteochondrodyspl...
Abstract Background Short stature (SS) is a relatively early sign of poor health. Only in 5% of case...
Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied clinically and radiogr...
We present a metabolic disorder with main complaints of unresolving short stature following prolonge...
A case of congenital short gut is reported in a 4-month-old boy presenting with failure to thrive. U...
Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a ''happ...
Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized b...
Basal encephaloceles are rare, accounting for about 1.5 % of all encephaloceles. Transsphenoidal enc...
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