scholarly journals Congenital Contractural Arachnodactyly

2020 ◽  
Author(s):  
Keyword(s):  
Congenital Contractural Arachnodactyly

FBN2,FBN1,TGFBR1, andTGFBR2 analyses in congenital contractural arachnodactyly

2007 ◽  
Vol 143A (7) ◽  
pp. 694-698 ◽  
Author(s):  
Akira Nishimura ◽  
Haruya Sakai ◽  
Shiro Ikegawa ◽  
Hiroshi Kitoh ◽  
Nobuyuki Haga ◽  
...  
Keyword(s):  
Congenital Contractural Arachnodactyly

Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder

2013 ◽  
Vol 125 (9-10) ◽  
pp. 288-290 ◽  
Author(s):  
Alexander Jurko ◽  
Jana Krsiakova ◽  
Milan Minarik ◽  
Ingrid Tonhajzerova
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disorder ◽  
Congenital Contractural Arachnodactyly

Congenital contractural arachnodactyly

1983 ◽  
Vol 1 (3) ◽  
pp. 128-128
Author(s):  
David Forbes ◽  
Ronald Hagan
Keyword(s):  
Congenital Contractural Arachnodactyly

scholarly journals Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
L. Rozendaal ◽  
N. A. Blom ◽  
Y. Hilhorst-Hofstee ◽  
A. D. J. Ten Harkel
Keyword(s):  
Ventricular Septal Defect ◽  
Pulmonary Artery ◽  
Marfan Syndrome ◽  
Aortic Root ◽  
Dna Analysis ◽  
Septal Defect ◽  
Normal Limits ◽  
Congenital Contractural Arachnodactyly ◽  
Pulmonary Artery Dilatation

We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD), and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS) and congenital contractural arachnodactyly. After surgical VSD closure, the aortic root developed progressive dilatation while the size of pulmonary artery returned to normal limits. Eventually the diagnosis of MFS was confirmed by DNA analysis.

Congenital contractural arachnodactyly

1985 ◽  
Vol 58 (695) ◽  
pp. 1115-1117 ◽  
Author(s):  
R. C. Travis ◽  
D. G. Shaw
Keyword(s):  
Congenital Contractural Arachnodactyly

scholarly journals Clinical Characteristics and Genetic Analysis of Birt-Hogg-Dubé Syndrome With Congenital Contractural Arachnodactyly in a Family

2021 ◽  
Author(s):  
Jiayong Qiu ◽  
Yao Lou ◽  
Yingwei Zhu ◽  
Min Wang ◽  
Huifang Peng ◽  
...  
Keyword(s):  
Spontaneous Pneumothorax ◽  
Genetic Diseases ◽  
Skin Lesions ◽  
Shortness Of Breath ◽  
Chest Tightness ◽  
Kidney Tumors ◽  
Congenital Contractural Arachnodactyly ◽  
Variation Characteristics ◽  
Hand Deformity ◽  
Bhd Syndrome

Abstract Background Birt-Hogg-Dubé Syndrome (BHD syndrome) and congenital contractural arachnodactyly (CCA) or Beals Hecht Syndrome (BHS) are clinically rare autosomal dominant genetic diseases. In this study, we find an extremely rare family with BHD Syndrome with CCA.Objective To investigate the clinical and genetic variation characteristics of a family with BHD Syndrome with CCA.Methods The patient was examined for chest Computed Tomography (CT), abdominal and heart color ultrasound, rheumatism immune-related indexes, and hand Direct Digital Radiography (DR), and Whole Exome Sequencing (WES) was performed on family members.Results The proband, male, developed symptoms of chest tightness and shortness of breath, accompanied by irritant cough 2 years ago, and then repeated spontaneous pneumothorax four times. Chest CT showed: spontaneous pneumothorax on the right side, emphysema in both lungs, and bullae in both lungs. No manifestations of kidney tumors and skin lesions. His son had a history of pulmonary bullobes and occurred spontaneous pneumothorax twice. He, his mother, and his son were all born with a hand deformity. Sequencing results showed that both the proband and his son were folliculin (FLCN) gene c.1015C>T（p.Gln339Ter） heterozygous variation, Fibrillin 2 gene (FBN2) gene c.3485G>A（p.Cys1162Tyr） heterozygous variation, associated with BHD syndrome and CCA.Conclusion For patients with chest tightness, shortness of breath, recurrent spontaneous pneumothorax, and congenital hand deformity without inducement, genetic testing should be carried out as soon as possible to make a clear diagnosis, which can guide treatment and genetic counseling.

New Finding of Protrusio Acetabuli in Two Families with Congenital Contractural Arachnodactyly

2007 ◽  
Vol 89 (4) ◽  
pp. 849-854
Author(s):  
Stacey D. McClure ◽  
Samuel Van de Velde ◽  
Ramona Fillman ◽  
Suzanne Yandow
Keyword(s):  
Protrusio Acetabuli ◽  
Congenital Contractural Arachnodactyly ◽  
New Finding
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