Rhizomelia - Wikipedia
网页Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder.
Rhizomelic chondrodysplasia punctata - Wikipedia
网页Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts.
Rhizomelic Chondrodysplasia Punctata - Symptoms, Causes, …
网页2023年11月30日 · Learn about Rhizomelic Chondrodysplasia Punctata, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD.
Rhizomelic chondrodysplasia punctata - MedlinePlus
网页Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays.
Rhizomelic Chondrodysplasia Punctata Type 1
网页2001年11月16日 · Clinical characteristics. Rhizomelic chondrodysplasia punctata type 1 (RCDP1), a peroxisome biogenesis disorder (PBD) has a classic (severe) form and a nonclassic (mild) form. Classic (severe) RCDP1 is characterized by proximal shortening of the humerus (rhizomelia) and to a lesser degree the femur, punctate calcifications in …
Rhizomelic chondrodysplasia punctata | About the Disease | GARD
网页Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the bones in the upper arms and thighs (rhizomelia).
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
网页Comparison of the relative length of all the long bones and against normative values will determine whether there is primarily rhizomelia, mesomelia, or that both segments are involved. One helpful ratio is the femur to foot ratio, …
Orphanet: Rhizomelic chondrodysplasia punctata
网页A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures. ORPHA:177.
Mesomelia/Rhizomelia - SpringerLink
网页2014年1月1日 · Rhizomelia is defined as either a disproportion of the length of the proximal limb usually shortening or deformity affecting the shoulder and arm or hip and thigh. The term mesomelic pertains to the middle portions of the limbs including forearm and leg.
Rhizomelic Chondrodysplasia Punctata (RCDP) - Physiopedia
网页These patients present with severe and symmetrical shortening of the proximal long bones (rhizomelia), calcifications in cartilage with epiphyseal and metaphyseal abnormalities, bilateral cataracts, spasticity, and severe growth and psychomotor delays.