Clinical manifestations of type IV ulna longitudinal dysplasia.

PURPOSE: Ulna longitudinal dysplasia is an uncommon congenital anomaly that demonstrates a wide variety of clinical manifestations. The clinical manifestations and function of patients with Bayne type IV ulna longitudinal dysplasia have not been well characterized. The purpose of this study was to report the clinical features of type IV ulna longitudinal dysplasia and the extent to which this affects a patient's ability to perform activities of daily living. METHODS: The medical records of children diagnosed with ulna longitudinal dysplasia in our institution between 1960 and 2004 were reviewed. The children found to have ulna longitudinal dysplasia with radiohumeral synostosis (Bayne type IV ulna dysplasia) were studied. The laterality of the deformity, associated musculoskeletal and nonmusculoskeletal anomalies, and treatments were recorded. Patients were interviewed regarding their ability to perform activities of daily living. RESULTS: One hundred twenty-five patients with 146 affected limbs were identified with ulna dysplasia. Seventeen limbs in 14 patients (12% of affected limbs) demonstrated radiohumeral synostosis (RHS). Three of 14 patients with RHS had bilateral involvement. The elbows were fixed in 20 degrees to 90 degrees of flexion. No elbows were positioned in full extension. Eleven of the 17 involved limbs with RHS had digital anomalies. Nine of the 17 limbs had surgical reconstruction. The majority of these procedures were performed on the hand. CONCLUSIONS: The elbow, forearm, wrist, and hand clinical findings associated with type IV ulna longitudinal dysplasia are variable. Surgical treatment usually focuses on correction of hand abnormalities. Many patients function satisfactorily and are able to perform daily activities without surgical intervention.

The use of the Ilizarov technique in the treatment of upper limb deformity in patients with Ollier's disease.

Between 1997 and 2001 three children with Ollier's disease underwent treatment of five upper limb segments using the Ilizarov technique. Average length discrepancy was 8.4 cm in the arm and 4.5 cm in the forearm, but coexisting large angular deformities were the major problem in all the children. Full correction of the axial deviations was achieved in all children. Restoration of length was achieved in all arms, but residual forearm length discrepancy persisted. In four segments conversion of the abnormal cartilage into normal regenerate was observed on radiograms. The problems, obstacles, and complications are similar to those met in more usual lengthening procedures. The Ilizarov technique should be the treatment of choice in restoring the correct axis and length of a limb in patients with Ollier's disease.

Upper limb abnormalities in mosaic trisomy 8 syndrome.

INTRODUCTION: Skeletal abnormalities are known to be a characteristic feature of the trisomy 8 syndrome, and radiological malformations are often more characteristic than the clinical features. CASE PRESENTATION: We report a mentally retarded male known to have mosaic trisomy 8 syndrome who presented with radial deviation of his right wrist. Radiographs showed an open ulna epiphysis with a closed radial epiphysis. Surgery was postponed until an older age as his ulna epiphysis had not yet closed, but clinical correction was achieved with a wrist brace. CONCLUSION: This is the first report of radial deviation of the wrist in a patient with mosaic trisomy 8.

Spondylar dysplasia in type X collagenopathy.

BACKGROUND: The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family. OBJECTIVE: To elucidate whether or not spondylar dysplasia is common in patients with mutations of COL10A1. MATERIALS AND METHODS: We re-evaluated the radiological manifestations in six patients with mutations of COL10A1, who had been previously reported as having MDS. RESULTS: Two of six patients showed mild platyspondyly in infancy and early childhood. In both patients, the spondylar dysplasia tended to normalize with age, but mild alterations of the vertebral bodies persisted, even into late childhood. The other radiological manifestations of both patients were identical to those of MDS. CONCLUSION: Our observation suggests that mild spondylar dysplasia may not be uncommon in MDS.

Ectopic respiratory mucosa in the skin associated with skeletal malformation and polydactyly.

We report a 19-year-old man with congenital erythematous plaque on his left arm that was found histopathologically to be composed of respiratory mucosa. The patient had a triphalangeal thumb and polydactyly in the left hand. This is, to our knowledge, only the third case of ectopic respiratory epithelium presenting as a superficial lesion in the skin to be reported in the English literature, and the first case associated with skeletal malformation and polydactyly.

Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes.

We report on a new-born girl with multiple congenital anomalies consisting of major skeletal anomalies restricted to the left side, cleft palate, ventricular and atrial septal defect, retromicrognathia, short neck, dysplastic low-set ears and large birth weight. The left-side bony anomalies include shortening and bowing of the femur and tibia, hypoplasia of the fibula, hip dislocation, clubfoot and mild shortening of the long tubular bones in the left arm with elbow dislocation. The pregnancy was complicated by insulin-dependent gestational diabetes mellitus in the mother. The radiographic features were not consistent with the diagnosis of campomelic dysplasia, kyphomelic dysplasia or other skeletal dysplasias characterized by bowing and shortening of the long bones. To our knowledge, the multiple congenital anomalies, including major skeletal malformations, present in our case have never been simultaneously reported until now. A maternal diabetes syndrome in this infant is probable. The occurrence of major congenital malformations in offspring of women with gestational diabetes is reviewed and discussed. We provide evidence that gestational diabetes mellitus could be teratogenic. We recommend a careful diabetic control in every woman with a history of gestational diabetes.

Disorders of the upper extremity in children.

This article presents a brief overview of the indications of MR imaging in a variety of disorders of the upper extremity of the pediatric patient. This covers congenital anomalies: Sprengel shoulder, Poland sequence, arthrogryposis; posttraumatic lesions of cartilage, bone, tendon, muscle and nerve including the brachial plexus injury; inflammatory arthritis and synovitis; bone and joint infection; osteochondritis dissecans, bone necrosis and infarcts in sickle cell anemia and juvenile Gaucher disease, as well as tumors. In this last category, the authors briefly describe the appearances of cysts and tumors of bones and soft tissues of the upper extremity. Indications for the intravenous administration of Gadolinium are given throughout the article with emphasis on the synovial enhancement seen in active arthritis and synovitis.

Craniometadiaphyseal dysplasia, wormian bone type.

We report on a 4-year-old boy with craniometadiaphyseal dysplasia (CMDD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones without the normal diaphyseal constriction, and wide ribs and clavicles. In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protuberances, which seem not related to CMDD. Parental consanguineity supports the autosomal recessive transmission of the condition.