Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB.
The clinical features of a father and daughter with Ehlers-Danlos syndrome type VIIB are described. They included severe cutaneous fragility, generalized joint laxity, kyphoscoliosis and a slightly dysmorphic face in the adult, with generalized joint laxity and congenital hip dislocation, hyperextensible skin and easy bruising in the child. The dermis contained slightly distorted collagen fibrils when examined by electron microscopy. The disorder is caused by G to A point mutation in the first base of intervening sequence 6 with resultant mis-splicing.
Pope
F M
FM
Clinical Research Centre, Harrow, U.K.
Nicholls
A C
AC
Palan
A
A
Kwee
M L
ML
De Groot
W P
WP
Hausmann
R
R
D000328:Adult; D003094:Collagen / Q000648:ultrastructure; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000473:pathology; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation; D012867:Skin / Q000648:ultrastructure
D003094:Collagen