Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy.
OBJECTIVE
To highlight the clinical features and diagnosis of cranio-osteoarthropathy, an extremely rare disease.


METHODS
Case report and literature review.


RESULTS
A 2.3-year-old child presented with mild swelling of his distal phalanges at the age of 5 months that became pronounced gradually. His parents were consanguineous and his 14-year-old sister had albinism. Physical examination showed normal height and weight. A mild prominent nose, patent cranial sutures and anterior and posterior fontanel, clubbing of the digits without cyanosis, finger joint laxity, large nails, and mild knock-knee were noted. Radiographs showed wormian bones, patent cranial sutures, anterior and posterior fontanels, periostosis and wide diaphyses of long bone, abnormal curvature tibia.


CONCLUSIONS
Cranio-osteoarthropathy is an extremely rare occurrence and may be an autosomal-recessive inheritance. This diagnosis should be considered while a patient presented digital clubbing, periosteal new bone formation and decreased neurocranium ossification.
Department of Medicine, The Children's Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, 310003, Hangzhou, China.
X
X
Chen
C C
CC
Zou
G P
GP
Dong
L
L
Liang
Z Y
ZY
Zhao
D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D005532:Foot Deformities, Congenital / Q000235:genetics / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D010004:Osteoarthropathy, Primary Hypertrophic / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography