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. Familial arthropathies are more often seen in communities where interfamilial marriage is common. Such a collection of patients is ideal for homozygosity mapping of the disease locus.
If FNAB were to be replaced with 1.2-mm NCB using an automatic gun, the diagnostic yield for abdominal and pelvic focal lesions in children would improve significantly (P < 0.05) while the complication rate would remain low. NCB may reduce the need for diagnostic and staging surgery and repeated procedures.
A series consisting of 29 children with markedly dislocated fractures of the neck of the radius has been analysed. The method of measuring the angular dislocation is discussed. A true dislocation not exceeding 30 degrees may be left unreduced. Associated skeletal lesions of the elbow imply a less favourable prognosis.
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