Literature DB >> 3789025

A severe form of congenital contractural arachnodactyly in two newborn infants.

G Currarino, J M Friedman.   

Abstract

Congenital contractural arachnodactyly (CCA) is an uncommon condition characterized by arachnodactyly, dolichostenomelia, kyphoscoliosis, "crumpled" auricles, and flexion contractures at knees, elbows, fingers, and sometimes other joints. The long-term prognosis for affected individuals is usually relatively good. We report on two newborn infants with severe CCA, both of whom died in the first year of life. One child also had other anomalies not generally associated with this disorder. These observations are consistent with the possibility that CCA is an etiologically and clinically heterogeneous disorder.

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Year:  1986        PMID: 3789025     DOI: 10.1002/ajmg.1320250414

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

1.  Cardiac anomalies complicating congenital contractural arachnodactyly.

Authors:  A J Macnab; L D'Orsogna; D E Cole; P E Baguley; R J Adderley; M W Patterson
Journal:  Arch Dis Child       Date:  1991-10       Impact factor: 3.791

2.  Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

Authors:  M Wang; C L Clericuzio; M Godfrey
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

3.  Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

Authors:  E A Putnam; E S Park; C M Aalfs; R C Hennekam; D M Milewicz
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

4.  Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype.

Authors:  D Bonneau; J L Huret; G Godeau; D Couet; M Putterman; J Tanzer; P Babin; M Larrègue
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

Review 5.  Congenital contractural arachnodactyly (Beals syndrome).

Authors:  D Viljoen
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

6.  Osteocraniostenosis.

Authors:  A Verloes; F Narcy; B Grattagliano; A L Delezoide; P Guibaud; J P Schaaps; M Le Merrer; P Maroteaux
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

7.  Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.

Authors:  Nicole Revencu; Geneviève Quenum; Thierry Detaille; Gaston Verellen; Anne De Paepe; Christine Verellen-Dumoulin
Journal:  Eur J Pediatr       Date:  2003-10-30       Impact factor: 3.183

  7 in total

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