Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance.
In this report we describe the association of progressive anterior vertebral body fusion, generalized over-growth especially with large hands and feet and unusual thick skin and subcutaneous tissue of upper and lower limbs, and peculiar craniofacial appearance.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Fabry
G
G
Remans
J
J
Colla
P
P
D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental / Q000175:diagnosis; D002648:Child; D005147:Facial Bones / Q000002:abnormalities*; D006130:Growth Disorders / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D006965:Hyperplasia; D008159:Lumbar Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D012867:Skin / Q000473:pathology; D012886:Skull / Q000002:abnormalities*