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Achondroplasia

 Subject
Subject Source: Medical Subject Headings
Scope Note: Notes = An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. ,Created For = LHSA-Dott

Found in 4 Collections and/or Records:

PR1.1389, 1937-1939

 Item
Identifier: LHB1 CC/20/PR1.1389
Scope and Contents Typed case summary, charts, reports, notes, correspondence, drawings, autopsy report, black-and-white photographs and photographic negatives relating to male from Scotland (outside Edinburgh and the Lothians) aged 38 at first examination in 1937. Conditions mentioned include: back pain; gait disorders; spinal cord compression; paraplegia; and achondroplasia. Surgical treatment given. Patient discharged.

PR2.7988, 1949-1964

 Item
Identifier: LHB1 CC/24/PR2.7988
Scope and Contents Typed case summary, chart, photographs and correspondence relating to female patient from Scotland (outside Edinburgh and the Lothians) aged 13 at first examination in 1949. Conditions mentioned include: dwarfism; and achondroplasia. No treatment given. Patient discharged.

PR2.9363, 1950

 Item
Identifier: LHB1 CC/24/PR2.9363
Scope and Contents Correspondence and report relating to female patientfromScotland (outside Edinburgh and the Lothians) aged 23 at first examination in 1950. Conditions mentioned include: epilepsy; fits; and achondroplasia. No treatment given. Patient discharged.

PR4.320, 1939

 Item
Identifier: LHB1 CC/22/PR4.320
Scope and Contents Correspondence and typed case summary relating to female patient from Scotland (outside Edinburgh and the Lothians) aged 6 at first examination in 1939. Conditions mentioned include: achondroplasia. No treatment given. Patient discharged.