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 ?
Achondroplasia is one of the most common forms of dwarfism - and affects around 1 in 25,000 people.
The rate of incidence of achondroplasia is one in 15,000 to one in 40,000 live births, with approximately 18,000 to 24,000 patients in the U.
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Darren was born with the genetic condition achondroplasia, the most common form of the restricted growth problem known as dwarfism.
Simmonds, who will be 14 in November and has Achondroplasia (dwarfism), broke her own British record in securing victory - and her best event is yet to come.
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I am a health visitor working in Wiltshire and have a five-week-old baby who was diagnosed with achondroplasia at birth.
The researchers used flow cytometry and statistical analysis to observe associations between a subject's age, his semen quality, and genomic abnormalities in his sperm such as DNA fragmentation, aneuploidy, diploidy, and mutations related to achondroplasia and Apert syndrome.
Patients with achondroplasia have a large head with a prominent frontal region and a depressed bridge of the nose.
My son has a condition called achondroplasia, which is a form of dwarfism that affects the long bones of the body (arms and legs).
The muscles of the lower leg were studied before, during, and after leg lengthening in 38 patients with achondroplasia and in 32 patients with congenital leg length discrepancy.
Our son has achondroplasia, dwarfism's most common and easily identifiable form.