Congenital pseudarthrosis of the clavicle.

BACKGROUND: Congenital pseudarthrosis is an uncommon anomaly poorly referred to in the pediatric literature. OBJECTIVE: To describe congenital pseudarthrosis in children. We discuss the presentation, clinical symptomatology, and treatment. MATERIALS AND METHODS: We reviewed the records of four children with congenital pseudarthrosis from 1990 to 2009 at the radiology department of Texas Scottish Rite Hospital for Children. RESULTS: Four girls ages 4 through 14 were identified. Three children presented with a bulge in the mid-clavicle as a chief complaint. The fourth child (14 years old) had bluish discoloration of the right upper extremity with venous distention. Three of the four did not have other abnormalities, while the 14-year-old had exostosis on the left hand. The mid-portion of the right clavicle was involved in all four children. Three of the four were treated surgically. CONCLUSION: Congenital pseudarthrosis of the clavicle is an uncommon anomaly found mostly in girls and in the mid-right clavicle.

Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.

Six patients who presented with craniofacial anomalies, musculoskeletal anomalies including elongated and bowed (serpentine) fibulae, and polycystic kidneys are reported. This association of anomalies is referred to as serpentine fibula polycystic kidney syndrome (SFPKS) and is currently interpreted as a manifestation of Hajdu-Cheney syndrome (HCS). We report a new instance of this association of anomalies and review the clinical and radiographic features of HCS and of the reported cases of SFPKS.

Neonatal subperiosteal cephalohematoma crossing a synostosed sagittal suture.

A newborn boy, born at term by a spontaneous delivery, presented in the first day of life with a soft-tissue mass across a synostosed segment of the sagittal suture. In the following week the mass became better defined and showed peripheral calcifications consistent with a calcified subperiosteal hematoma.

Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases.

BACKGROUND: The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution. OBJECTIVES: To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of craniosynostosis and other cranial vault changes seen in these conditions and to review the literature for relevant findings. MATERIALS AND METHODS: Clinical and imaging records were reviewed on 28 patients with hypophosphatemic rickets, all younger than 18 years. Most patients had X-linked hypophosphatemic rickets and a few had autosomal-dominant hypophosphatemic rickets or were non-familial cases. RESULTS: Of the 28 patients, 13 had sagittal synostosis. Dolichocephaly was present in ten patients. The configuration of the cranial vault in some of these ten patients with dolichocephaly varied somewhat from that seen in nonsyndromic sagittal synostosis. In one patient, a Chiari I malformation was demonstrated by MRI. In another patient with increased intracranial pressure the sagittal suture closure was associated with lambdoidal synostosis. Dolichocephaly was not present in three patients, suggesting that the synostosis started later than in the other patients, probably in the second year of life, a period of slower brain growth than in the first year. The two patients in this group of three showed thickening and sclerosis of the cranial vault of uncertain etiology. CONCLUSION: There is an increased risk of sagittal synostosis in hypophosphatemic rickets and related diseases in children. The appearance of the cranial vault in this type of synostosis can vary from that seen in nonsyndromic synostosis. In this setting, careful clinical and imaging follow-up is warranted.

Lesions of the accessory parotid gland in children.

The accessory parotid gland, a little-known and seldom-mentioned anatomical variant, is a nodule of normal salivary tissue separate from the main parotid gland, located on the masseter muscle and connected to the Stensen duct at that level. It can be the site of both congenital and acquired lesions.

An unusual form of congenital anterolateral tibial angulation-the delta tibia.

We report three infants with a poorly known form of congenital anterolateral angulation of the tibia with distinctive features seen on lateral roentgenograms. In these films the affected tibia appears to be divided into two segments, one proximal and the other distal, which taper as they approach each other at the site of the angulation, and end separately at the apex of the curve with an intervening radiolucent gap in the anterior tibial cortex. The two tibial segments are originally bridged and held firmly in that position by a well-defined triangular osseous structure located in the concavity of the tibial bow. It appears from the three cases reported in this paper and a few comparable cases in the literature that this form of tibial bowing is not prone to fracture followed by pseudoarthrosis and that it tends to improve (and resolve) spontaneously, with a resorption of the intramedullary bony structures at the apex of the curve resulting in the formation of a normal medullary cavity. A limb length discrepancy of varying degree is the main residual change of the anomaly.

Segmentation defect in the midodontoid process and its possible relationship to the congenital type of os odontoideum.

This paper describes ten children with a developmental defect in the midportion of the odontoid process that may be related to congenital os odontoideum. Six of the patients had a skeletal dysplasia, the seventh had an associated congenital C5-C6 fusion, and the last three patients had no other congenital anomalies.