X Chen1, C C Zou, G P Dong, L Liang, Z Y Zhao. 1. Department of Medicine, The Children's Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, 310003, Hangzhou, China.
Abstract
AIM: To highlight the clinical features and diagnosis of cranio-osteoarthropathy, an extremely rare disease. METHODS: Case report and literature review. RESULT: 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. CONCLUSION: 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.
AIM: To highlight the clinical features and diagnosis of cranio-osteoarthropathy, an extremely rare disease. METHODS: Case report and literature review. RESULT: 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. CONCLUSION: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.
Authors: Tabib Dabir; A M Sills; Christine M Hall; Chris Bennett; Louise C Wilson; Raoul C M Hennekam Journal: Clin Dysmorphol Date: 2007-07 Impact factor: 0.816