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Literature DB >> 3385739

Sorsby syndrome: a report on further generations of the original family.

Abstract

Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members of the family originally described by Sorsby. Two of these have a single kidney, two have hearing loss, and one has a uterine anomaly.

Entities: Disease

Mesh：

Year: 1988 PMID： 3385739 PMCID： PMC1050457 DOI： 10.1136/jmg.25.5.313

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

7 in total

1. CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE FAMILIAL OCCURRENCE OF BILATERAL MACULAR COLOBOMA IN ASSOCIATION WITH APICAL DYSTROPHY OF HANDS AND FEET.

Authors: A Sorsby
Journal: Br J Ophthalmol Date: 1935-02 Impact factor: 4.638

2. Classification and identification of inherited brachydactylies.

Authors: N Fitch
Journal: J Med Genet Date: 1979-02 Impact factor: 6.318

3. Macular coloboma and skeletal abnormality.

Authors: C I Phillips; D L Griffiths
Journal: Br J Ophthalmol Date: 1969-05 Impact factor: 4.638

4. Congenital contractural arachnodactyly and intraocular colobomas.

Authors: L A Bard
Journal: Birth Defects Orig Artic Ser Date: 1979

5. Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.

Authors: F Halal; M Homsy; G Perreault
Journal: Am J Med Genet Date: 1984-04

6. A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies.

Authors: F Halal
Journal: Am J Med Genet Date: 1986-05

7. Congenital macular colobomas and short-limb skeletal dysplasia.

Authors: R D Smith; R M Fineman; D O Sillence; P D Lester; G W Nixon; D L Rimoin; R S Lachman
Journal: Am J Med Genet Date: 1980

7 in total

5 in total

1. Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

Authors: Y Gong; D Chitayat; B Kerr; T Chen; R Babul-Hirji; A Pal; M Reiss; M L Warman
Journal: Am J Hum Genet Date: 1999-02 Impact factor: 11.025

2. Tissue inhibitor of matrix metalloproteinase-3 levels in the extracellular matrix of lung, kidney, and eye increase with age.

Authors: Anne M Macgregor; Charles G Eberhart; Mostafa Fraig; Jie Lu; Marc K Halushka
Journal: J Histochem Cytochem Date: 2008-10-27 Impact factor: 2.479