TY - JOUR
T1 - New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers
AU - Borrone, C.
AU - Di Rocco, M.
AU - Crovato, F.
AU - Camera, G.
AU - Gambini, C.
PY - 1993
Y1 - 1993
N2 - We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, 'coarse' face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.
AB - We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, 'coarse' face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.
KW - gingival hypertrophy
KW - mitral valve prolapse
KW - osteolysis
KW - thick skin
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M3 - Article
C2 - 8484415
AN - SCOPUS:0027480173
VL - 46
SP - 228
EP - 234
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -