After the report of a second family with IVIC syndrome [Arias et al., 19801 by Sammito et al. [1988], we are presenting here a third family, with affected mother and son (Fig. 1).The X-ray examination of the affected mother (born in 1962) on the right, showed absence of thumb, first metacarpus, and 0s multangulum maius; a synostosis between the 0 s multangulum minus and 0 s capitatum; elongation of the 0s lunatum in a navicular-like shape; exostoses in proximal and middle phalanges of the index finger; short radius and ulna with a proximal synostosis; a thinner right humerus; on the left, absence of thumb, first metacarpus, 0s multangulum maius, 0s naviculare, and radius, though there is a round bone in its proximal location; synostosis between the 0s multangulum minus and 0s capitatum; shorter ulna; and thinner humerus in left upper limb (Fig. 2). Ophthalmologic examination confirmed weakness of the external rectus muscle in both eyes. Audiologic examination confirmed a moderate hearing loss. However, the hematologic examination did not show any alterations, and other organs, including heart and greater vessels, kidneys, and vertebrae, were normal.Her son (born in 1987) has absence of thumb, first metacarpus, carpal bones (only the 0s capitatum was seen at 14 months), and radius of both upper limbs (Fig. 3), as well as strabismus. Ophthalmologic and audiologic examinations did not result in appropriate findings due to the lack of collaboration in this young boy.After an ultrasonic scan during pregnancy the mother delivered a healthy girl in 1988.
REFERENCESArias S, Penchaszadeh VB, Pinto-Cisternas I, Larrauri S (1980): The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impariment, external ophthalmoplegia, and thromhocytopenia. Am J Med Genet 6:25-29. Sammito V, Motta D, Capodieci G, Sanfilippo S, Neri G (1988): IVIC syndrome: report of a second family. Am J Med Genet 20:875-881.Fig. 1. Bilateral radial ray defect in the prohand and her son.
