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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:

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.

Dates: 1939
Found in: Lothian Health Services Archive: Case Notes / Royal Infirmary of Edinburgh Folder-based Case Notes / RIE, Professor Norman Dott, Neurology, Ward 20, Filed by Disease

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.

Dates: 1937-1939
Found in: Lothian Health Services Archive: Case Notes / Royal Infirmary of Edinburgh Folder-based Case Notes / RIE Professor Norman Dott Case Notes

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.

Dates: 1949-1964
Found in: Lothian Health Services Archive: Case Notes / Royal Infirmary of Edinburgh Folder-based Case Notes / RIE, Professor Norman Dott, Neurology, Ward 20 (part 2)

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.

Dates: 1950
Found in: Lothian Health Services Archive: Case Notes / Royal Infirmary of Edinburgh Folder-based Case Notes / RIE, Professor Norman Dott, Neurology, Ward 20 (part 2)

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