Facial dysmorphism, multiple pigmented nevi, osteoporosis, brachydactyly, and other skeletal changes in a male: a new syndrome?
A adult male is described with facial dysmorphism, multiple pigmented nevi, osteoporosis, and multiple skeletal anomalies. This combination does not fit any known syndromes and may represent a new entity.
Oktenli
Cağatay
C
Ulucan
Hakan
H
Sağlam
Mutlu
M
Gül
Davut
D
D000328:Adult; D005147:Facial Bones / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000503:physiopathology*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009508:Nevus, Pigmented / Q000503:physiopathology*; D010024:Osteoporosis / Q000503:physiopathology*; D011859:Radiography