Achondroplasia

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achondroplasia

[¦ā‚kän·drə′plāzh·ē·ə]
(medicine)
A hereditary deforming disease of the skeletal system, inherited in humans as an autosomal dominant trait and characterized by insufficient growth of the long bones, resulting in reduced length. Also known as chondrodystrophy fetalis.

Achondroplasia

 

or chondrodystrophy, a congenital disease that begins prenatally and is manifested by impaired growth of the extremities in length. The infant is born with short arms and legs, which later lag considerably in growth or do not grow at all while the trunk, neck, and head grow normally. Achondroplasia is often associated with other developmental anomalies and mental retardation. The basis of the disease is derangement of the process of ossification at the boundary between the epiphysis and diaphysis. The causes of achondroplasia are unknown.

REFERENCE

Rusakov, A. V. “Vrozhdennaia disgarmoniia rosta periostal’noi i enkhondral’noi kostnoi tkani.” In Mnogotomnoe rukovodstvo po patologicheskoi anatomii, vol. 5. Edited by A. I. Strukov. Moscow, 1959. (Contains a bibliography.)
References in periodicals archive ?
We have presented a case of an achondroplastic patient with spinal stenosis so severe that no CSF was discernible around the nerve roots at the levels of the lumbar pedicles and discs upon MRI scan.
I challenge anyone to look at Velasquez's magnificent portraits of achondroplastic dwarves in the Prado, and genuinely to believe that they represent a visual argument justifying the maltreatment, mockery, or disdain of such dwarves, or that they are meant as examples of human life that is so unworthy of life that it would have been better they had never been born, or had been strangled at birth.
He could have envisaged the achondroplastic man as representing Pygmalion and the convulsive figure as (an albeit distinctively Baconic) Galatea: if so, again he possibly considered the allusion to the Greek myth as too specific, too illustrational.
The ability of the muscles to increase their length while the bone growth retards and then stops demonstrates that there is some advantage in performing limb lengthening in achondroplastic children.
She said Ms Loveridge - a 3ft 6in achondroplastic dwarf - often fell asleep while watching television or listening to music.