An unusual connective tissue disease in mother and son: A “new” type of Ehlers‐Danlos syndrome?
- 1 March 1982
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 21 (3) , 168-173
- https://doi.org/10.1111/j.1399-0004.1982.tb00958.x
Abstract
A 23‐year‐old woman and her 2 1/2‐year‐old son both had large hernias, positional foot deformities, abnormal thoracic shape, asthma, and severe eczematoid dermatitis. Their facial appearance was quite similar and included asymmetry with prominent nasal bridge and small jaw. In addition, the mother had severe thoracolumbar kyphoscolosis and “cigarette paper” scars over her legs. She died after rupture of a thoracic aortic aneurysm and was found on postmortem examination to have cystic medionecrosis of the aorta and myxomatous degeneration and elongation of the mitral and tricuspid valves. The family history was otherwise negative; there was no consanguinity. The connective tissue disease in this mother and her son appears to be a previously unrecognized dominantly‐inherited disorder with some similarity to classical Ehlers‐Danlos syndrome.Keywords
This publication has 11 references indexed in Scilit:
- A New Form of Ehlers-Danlos SyndromePublished by American Medical Association (AMA) ,1980
- A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet functionJAMA, 1980
- A distinct variant of the Ehlers‐Danlos syndromeClinical Genetics, 1979
- A new presumably autosomal recessive form of the Ehlers‐Danlos syndromeClinical Genetics, 1979
- Heritable Disorders of Connective Tissue: Ehlers-Danlos SyndromePediatric Clinics of North America, 1978
- CHRONIC PULMONARY DISEASE IN A CHILD WITH THE EHLERS‐DANLOS SYNDROMEActa Paediatrica, 1976
- Molecular Defects in CollagenAnnals of Internal Medicine, 1975
- Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients.Annals of the Rheumatic Diseases, 1969
- TracheobronchiomegalyThe Annals of Thoracic Surgery, 1966