NAIL-PATELLA SYNDROME WITH ILIAC HORNS AND HEREDITARY NEPHROPATHY

The nail-patella syndrome, also called hereditary onycho-osteodysplasia, arthro-onycho-dysplasia and onycho-mesodysplasia, is of interest to clinicians and geneticists because of the variety of congenital abnormalities. It is easily recognised by the appearance of the finger nails, which are dystrophic or absent. Thumb nails are most commonly involved, other nails becoming progressively less affected towards the little finger. Men often show hemidysplasia of the cubital side of the nail (Montant and Eggermann 1937) whereas women have a small, apparently normal base with the nail gradually fading away so that the flesh at the end of the finger turns over the nail. Toe nails are usually normal. The patellae are often absent or rudimentary. Usually a triad of anomalies is completed by arthrodysplasia of the elbows (Lester 1936, Senturia and Senturia 1944). A poorly formed and backwardly subluxated head of the radius articulates with a small underdeveloped capitulum. This causes an increased carrying angle, reduction of supination and incomplete extension of the elbow. lliac horns are a frequent manifestation of the syndrome (Fig. 1). These bilateral conical projections arise from the centre of the posterior surfaces of the iliac bones (Kieser 1939