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Ectrodactyly

 Subject
Subject Source: Medical Subject Headings
Scope Note: Note: An autosomal dominant limb malformation disorder involving the central rays of the autopod and presenting with SYNDACTYLY, median clefts of the hands and feet, and aplasia and/or hypoplasia of the FINGER PHALANGES and/or TOE PHALANGES; METACARPALS, and METATARSA‌LS. Some patients with SHFM1 have been found to have INTELLECTUAL DISABILITY, ectodermal and craniofacial findings, orofacial clefting and SENSORINEURAL HEARING LOSS. Mutations have been mapped to the chromosome 7q21.3 region, which includes the DSS1, DLX5, and DLX6 genes. OMIM: 183600 Created for: LHSA- Gow.

Found in 5 Collections and/or Records:

[Congenital Abnormalities] Photograph Album, c1971-c1984

 File
Identifier: LHB71/3/1/5
Scope and Contents Untitled photograph album compiled by Helen J Scott with hand chart drawings and photographs used in occupational training sessions with patients with congenital defects. Arranged no alphabetically by patient, with photographs showing patients undertaking various activities, including eating, stacking objects, and doing puzzles. Half of the sleeves in the album are empty, and there are only 20 photographs in total. Photographs cover range of conditions including amelia and Phocomelia, the...
Dates: c1971-c1984

[Congenital Abnormalities] Photograph Album, c1972-c1986

 File
Identifier: LHB71/3/1/6
Scope and Contents

Untitled photograph album compiled by Helen J Scott with hand chart drawings, patient notes, and photographs used in occupational training sessions with patients with congenital defects. Arranged nonalphabetically mostly by patient, however with compilation of notes on multitude of different patients in two back sleeves, with notes relating to cases in other albums. Only five photographs.

Dates: c1972-c1986

Congenital Deformities Photograph Album, c1972-c1986

 File
Identifier: LHB71/3/1/7
Scope and Contents Photograph album compiled by Helen J Scott entitled 'Congenital Deformities' with hand chart drawings, patient notes, and photographs used in occupational training sessions with patients with below elbow amputations. Arranged nonalphabetically by patient, with photographs showing patients undertaking various activities, including eating, drinking, stacking objects, and beading. Includes large stack of occupational therapy hand charts and drawing, as well as a short 'arm diary' on patients...
Dates: c1972-c1986

Congenital Deformities Photograph Album, 1973-c1985

 File
Identifier: LHB71/3/1/8
Scope and Contents

Photograph album compiled by Helen J Scott entitled 'Congenital Deformities' with hand chart drawings, patient notes, and photographs used in occupational training sessions with patients with finger anomalies such as syndactyly, Ectrodactyly, and Brachydactyly. Arranged nonalphabetically by patient, with photographs primarily consisting of photographs of hands. but also with some photographs showing patients undertaking various activities, including drawing, beading, and stacking objects.

Dates: 1973-c1985

Photographic Material, c1960-c2000

 Sub-Fonds
Identifier: LHB71/3
Scope and Contents From the Fonds:

Adminstrative papers, correspondence, reports, photographs, publications, and research and development documents. To date, this collection has been partially catalogued. For more information, please contact the LHSA Archivist: lhsa@ed.ac.uk.

Dates: c1960-c2000