✦ LIBER ✦

The clinical spectrum of congenital contractural arachnodactyly

✍ Scribed by Lipson, Edward H. ;Viseskul, Chirane ;Herrmann, J�rgen

Publisher: Springer-Verlag
Year: 1974
Weight: 686 KB
Volume: 118
Category: Article
ISSN: 0044-2917
DOI: 10.1007/bf00506049

No coin nor oath required. For personal study only.

✦ Synopsis

A case of congenital contractural arachnodactyly with severe cardiovascular malformations is described. This ease and two other reports of CCA with congenital heart disease from the literature indicate a wider spectrum of clinical manifestations in CCA than generally assumed. The pattern of abnormalities suggests that the underlying connective tissue abnormality in CCA is "spotty" and not generalized as in such disorders as the Marfan syndrome, Stickler syndrome and arthro-dento-osteo dysplasia.

📜 SIMILAR VOLUMES

Cardiovascular findings in congenital co

Cardiovascular findings in congenital contractural arachnodactyly: Report of an affected kindred

✍ Anderson, Richard A. ;Koch, Sandra ;Camerini-Otero, R. Daniel ;Opitz, John M. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 449 KB

A severe form of congenital contractural

A severe form of congenital contractural arachnodactyly in two newborn infants

✍ Currarino, Guido ;Friedman, J. M. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 712 KB

Ten novel FBN2 mutations in congenital c

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

✍ Prateek A. Gupta; Elizabeth A. Putnam; Sonya G. Carmical; Ilkka Kaitila; Beat St 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 370 KB

Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS. CCA and MFS result from mutations in highly similar genes, FBN2 and FBN1, res

van den Ende–Gupta syndrome of blepharop

van den Ende–Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures

✍ Dania Guerra; Otto Sanchez; Antonio Richieri-Costa 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB 👁 1 views

van den Ende–Gupta syndrome of blepharop

van den Ende–Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers

✍ Schweitzer, Daniela N. ;Lachman, Ralph S. ;Pressman, Barry D. ;Graham, John M. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 1 views

Comprehensive clinical and molecular ass

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

✍ Bert L. Callewaert; Bart L. Loeys; Anna Ficcadenti; Sascha Vermeer; Magnus Landg 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 205 KB

Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate