Antley-Bixler syndrome: description of two patients

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.     

Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis

We describe a woman and her daughter affected by brachydactyly type C. The unusual feature in the child included the striking angel-shaped appearance of the proximal phalanges of the index and middle fingers of one hand, whereas more typical triangular epiphyses with elongation of their radial side were present at the same location in the opposite hand. It is suggested that this peculiar phalangeal configuration occurs as a transitory event in early or mid childhood in phalanges that are marked by severe ossification delay, which is most prominent at the level of the primary ossification centre.     

Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome

Stratton and Parker [1989] described a 17-month-old boy with the previously unreported combination of growth hormone (GH) deficiency, Wormian bones, mild developmental delay, brachycamptodactyly, heart defects, kidney hypoplasia, imperforate anus, bilateral cryptorchidism, and facial anomalies. A similar case was later reported by Gabrielli et al. [1994], who suggested the existence of a "Stratton-Parker syndrome." Here, we describe a boy with isolated GH deficiency, body asymmetry, and brachycamptodactyly. At birth, complete anorectal agenesis and cryptorchidism were detected, which required surgical treatment. Radiographic examination showed the presence of bilateral proximal radioulnar subluxation and Kirner anomaly. Brain MRI showed asymmetry of the posterior horns of the lateral ventricles and enlarged cisterna magna. Psychomotor development had been mildly delayed during the first years of life. Due to the unique association of GH deficiency with intestinal, genital, and limbs abnormalities, we believe that our patient may represent a further case of Stratton-Parker syndrome. All patients reported, till date, are sporadic males born to healthy nonconsanguineous parents. X-linked recessive inheritance is a possibility to consider.     

Synchronous multicentric osteosarcoma

A case of synchronous multicentric osteosarcoma is reported in an 11-year-old boy. This very rare condition is characterized by simultaneous involvement of multiple skeletal sites, and the prognosis is generally poor.     

Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories

The study of the bent bones in a case of campomelic dysplasia and a review of the literature suggest a repair process at the site of angulation. A theory that can explain most of the features of the disease is presented; it supposes a damage of the cartilage model at the midshaft, followed by a fracture of the thin bone collar in the earlier stage of ossification of the diaphysis.     

Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses

Analysis of 330 exostoses in 18 patients affected by hereditary multiple exostoses disease suggested a new classification of exostoses as eccentric or full-thickness. Radiographically arrest of metaphyseal remodeling with failure of coning and persistence of the primary metaphyseal trabeculae was evident in full-thickness exostoses. Similar bone lesions can be obtained experimentally with inhibitors of bone turn-over. A localized, peripheral defect in remodeling over a limited time can give a satisfactory explanation also for the origin of eccentric exostoses. The thesis that this is the basic mechanism of exostosis formation is presented.