The Antley-Bixler syndrome comprises malformations of cartilage and bone. The essential signs are a dysmorphic facies with flattening of the central region of the face, humeroradial synostosis with flexed attitude of the upper limbs and swelling of the distal interphalangeal and metacarpophalangeal articulations. Congenital atresia of the nasal choanae, which is often present, makes the prognosis of this syndrome extremely severe. Two patients affected by the syndrome are described. Atresia of the nasal choanae was absent in both. The first patient had genital ambiguity, a condition which has been described in the literature in only two other cases; the second one had all the fundamental characteristics of the syndrome except for humeroradial synostosis, although hypoplasia of the lateral condyle of the humerus and dislocation of the radius are present in association with synostosis between the 2nd metatarsal and the intermediate cuneiform.