[Ehlers-Danlos syndrome IV: phenotype variation].
In three female patients, 20, 4 and 29 years of age, Ehlers-Danlos syndrome (EDS) IV was diagnosed on the basis of a deficiency of collagen III with among other things a hyperextensible skin and joints and easy bruising. Severity of symptoms varies considerably per patient. EDS comprises 10 types. Type IV is the most severe type because of its often lethal complications like arterial rupture. Deficiency of collagen III is also seen in EDS patients without the classical severe EDS IV phenotype. It is suggested to restrict collagen III analysis to patients who are suspected of having classical EDS IV.
Engels
C H
CH
Afd. Antropogenetica, Academisch Ziekenhuis, Nijmegen.
van Dongen
P W
PW
Boers
G H
GH
Steijlen
P M
PM
Hamel
B C
BC
D000328:Adult; D002675:Child, Preschool; D003094:Collagen / Q000172:deficiency; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000175:diagnosis* / Q000378:metabolism; D005260:Female; D006801:Humans
D003094:Collagen
Ehlers-Danlos-syndroom IV: variatie in fenotypen.