1974
DOI: 10.1007/bf00506049
|View full text |Cite
|
Sign up to set email alerts
|

The clinical spectrum of congenital contractural arachnodactyly

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
4
1

Citation Types

0
5
0

Year Published

1976
1976
2004
2004

Publication Types

Select...
6
1

Relationship

0
7

Authors

Journals

citations
Cited by 23 publications
(5 citation statements)
references
References 10 publications
0
5
0
Order By: Relevance
“…Following autopsy his aorta was found to be microscopically normal. Lipson et al 1974 also reported a newborn baby with CCA who also had patent ductus arteriosus (PDA), VSD, bicuspid aortic valve, narrowed aortic root and interrupted aortic arch. He also had Klinefelter syndrome (47,XXY).…”
Section: Discussionmentioning
confidence: 99%
See 2 more Smart Citations
“…Following autopsy his aorta was found to be microscopically normal. Lipson et al 1974 also reported a newborn baby with CCA who also had patent ductus arteriosus (PDA), VSD, bicuspid aortic valve, narrowed aortic root and interrupted aortic arch. He also had Klinefelter syndrome (47,XXY).…”
Section: Discussionmentioning
confidence: 99%
“…Differential diagnosis of congenital contractural arachnodactyly includes Marfan syndrome (McKusick 1972), Achard syndrome (Parish 1967), homocystinuria (Beals 1969), osteogenesis imperfecta (Shoenfeld et al 1975), Stickler syndrome (Lipson et al 1974) and distal arthrogryposis (Hall et al 1982). Characteristics of and separation of the first three conditions from congenital contractural arachnodactyly have been presented by Beals & Hecht (1971) and Hale et al (1974).…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…At least seven families have been reported [8,10,25,40,56,60,79],* and there have been numerous isolated case reports of congenital contractural arachnodactyly [4,19,32,34,36,45,5 1,53,56,68,84]. Cardiovascular abnormalities have been seen [8,10,19,34,51,68,84]; there is clinical resemblance to the Marfan syndrome. As in the Freeman-Sheldon syndrome, sporadic cases are more severe, and there is a great deal of variability within families, particularly with respect to skeletal abnormalities.…”
Section: Freeman-sheldon (Whistling Face) Syndrome (Appendix C) *mentioning
confidence: 99%
“…The absence of lens dislocation and cardiovascular involvement usually rule out Marfan's syndrome. On the other hand CCA with congenital heart disease has been reported (Lipson et al 1974). In arthrogryposis the contractures are more rigid and do not improve spontaneously.…”
Section: Discussionmentioning
confidence: 99%