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New form of idiopathic osteolysis: Nodulosis, arthropathy and osteolysis (NAO) syndrome by Sulaiman M. Al-Mayouf; Mahmoud Majeed; Claes Hugosson; Sultan Bahabri is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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We describe 10 patients (6 females and 4 males) from 6 unrelated families with an autosomal recessive disease characterized by simultaneous presentation of nodulosis, arthropathy and osteolysis. They were followed up regularly at King Faisal Specialist Hospital and Research Center in Saudi Arabia for clinical evaluation, serial blood work-up, and evaluating radiological changes. Nodulosis and arthropathy were the clinical criteria for inclusion in this study, and the ten patients fulfilled these criteria. All patients had nodulosis and distal arthropathy. Eight patients (80%) presented with deformed hands and four (40%) with painful hands. All patients had parents who were first cousins and three families had more than one affected child, the finding suggesting autosomal recessive inheritance. Osteopenia and undertubulation of bones distally more than proximally, and upper limbs affected more often than lower limbs, were found in all patients. Osteolysis was seen in carpal and tarsal bones. Other common findings were sclerotic cranial sutures, brachycephaly, and broad medial clavicles. This novel phenotype should be considered in the differential diagnosis of chronic arthritis. Fam

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Author

Sulaiman M. Al-Mayouf; Mahmoud Majeed; Claes Hugosson; Sultan Bahabri

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

2000

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)