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Literature DB >> 2334215

Contractural arachnodactyly with mitral regurgitation and iridodonesis.

Abstract

An infant girl with arachnodactyly, spontaneously resolving contractures, dolichostenomelia, iridodonesis, and mitral and tricuspid incompetence died in cardiac failure. We confirm that congenital contractural arachnodactyly may exhibit serious cardiovascular and ophthalmic complications like Marfan's syndrome. The presence of iridodonesis further obscures the differentiation between classical Marfan's syndrome and congenital contractural arachnodactyly.

Entities: Chemical Disease Species

Mesh：

Year: 1990 PMID： 2334215 PMCID： PMC1792294 DOI： 10.1136/adc.65.3.317

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

5 in total

1. Congenital contractural arachnodactyly. A heritable disorder of connective tissue.

Authors: R K Beals; F Hecht
Journal: J Bone Joint Surg Am Date: 1971-07 Impact factor: 5.284

2. Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred.

Authors: R A Anderson; S Koch; R D Camerini-Otero
Journal: Am J Med Genet Date: 1984-06

3. Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree.

Authors: H N Bass; R S Sparkes; B F Crandall; S M Marcy
Journal: J Pediatr Date: 1981-04 Impact factor: 4.406

4. Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant.

Authors: M A Gruber; T P Graham; E Engel; C Smith
Journal: J Pediatr Date: 1978-07 Impact factor: 4.406

5. Congenital contractural arachnodactyly. Report of four additional families and review of literature.

Authors: M A Ramos Arroyo; D D Weaver; R K Beals
Journal: Clin Genet Date: 1985-06 Impact factor: 4.438

5 in total

8 in total

Review 5. Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.

Authors: D M Milewicz
Journal: Tex Heart Inst J Date: 1994

Contractural arachnodactyly with mitral regurgitation and iridodonesis.

1. Congenital contractural arachnodactyly. A heritable disorder of connective tissue.

2. Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred.

3. Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree.

4. Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant.

5. Congenital contractural arachnodactyly. Report of four additional families and review of literature.

1. Contractural arachnodactyly versus Marfan's syndrome.

2. Cardiac anomalies complicating congenital contractural arachnodactyly.

3. Infantile scoliosis in Beals syndrome: the use of a non-fusion technique for surgical correction.

4. Megalocornea. Clinical and genetic aspects.

Review 5. Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.

Review 6. Congenital contractural arachnodactyly (Beals syndrome).

7. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

8. Ocular phenotype of Fbn2-null mice.