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J Pediatr Genet 2019; 08(02): 069-072
DOI: 10.1055/s-0038-1673643
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Classic Ehlers–Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father

Paushpala Sen
1   Department of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, United States
,
Merlin G. Butler
1   Department of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, United States
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Publikationsverlauf

07. Juni 2018

01. September 2018

Publikationsdatum:
13. Oktober 2018 (online)

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Abstract

We report a 13-year-old male patient with severe orthopedic problems including features of a connective tissue disorder and a heterozygous c.305T > A variant found within exon 3 of the autosomal dominant collagen (COL5A1) gene causing the classic Ehlers–Danlos syndrome. This variant has not been reported previously and identified as having an unknown clinical significance but classified as trending damaging per in silico prediction with high conservation among species. Our patient's father had the same gene variant and similar features of stretchable skin, easy bruising, and multiple joint dislocations. The father had unexplained heart failure requiring cardiac transplantation at 43 years of age.

Keywords

classic Ehlers–Danlos syndrome with COL5A1 gene variant - joint hypermobility - poor skin healing and easy bruising - heart transplant
 

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