X-linked Ehlers-Danlos syndrome type V; the next generation.
Two English families with the X-linked form (Type V) of the Ehlers-Danlos syndrome (EDS) who were investigated almost 20 years ago have been re-studied. In one family, the potentially heterozygous sister of 3 affected brothers had born two sons, of whom one has EDS. The 3 brothers had all procreated, producing a total of 2 sons and 3 daughters, all of whom are clinically normal. These pedigree data provide further evidence to support the syndromic identity and X-linked mode of inheritance of this form of the EDS. In the second family, two affected brothers had both procreated; one had produced three normal offspring, while the other had a son with soft extensible skin and a daughter with articular hypermobility. The syndromic status of this kindred is uncertain. Serum copper and ceruloplasmin concentrations in affected males and obligate carrier females in both families were normal. Cytogenetic investigations, including high resolution banding, yielded normal results.
D000293:Adolescent; D000328:Adult; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D002871:Chromosome Banding; D003300:Copper / Q000097:blood; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014960:X Chromosome
D003300:Copper; D002570:Ceruloplasmin