David Keret

Dysplasia epiphysealis hemimelica: diagnosis and treatment.

Clinical features and radiographic findings of eight patients with dysplasia epiphysealis hemimelica are described. In all patients, a single lower extremity was involved. The most common sites of involvement were the distal tibia and the distal femur. Magnetic resonance imaging was beneficial in determining a plane of separation between the accessory ossification center and the normal epiphysis. If the lesion is extraarticular, simple excision of the mass yields favorable results. If the lesion is intraarticular, an osteotomy may be needed to correct an angular deformity. Recurrence of the deformity is common.

Scoliosis in Rett syndrome

Rett syndrome is a progressive encephalopathy observed only in girls, who are apparently normal until 6 to 12 months of age. It is characterized by autism, dementia, ataxia, stereotypic hand movements, hyperreflexia, spasticity, and seizures. Eight of 10 females with Rett syndrome evaluated at the Alfred I. duPont Institute have C-shaped neuromuscular curves averaging 29 degrees (range 22-48 degrees). Curve progression was seen in all eight patients and occurred despite bracing in four, averaging 21 degrees (range 12-31 degrees). Five patients, two of whom were braced, have undergone posterior spinal fusion with segmental instrumentation for curves ranging in size from 49 to 105 degrees (average 67 degrees).

Evaluation of a uniform operative technique to treat syndactyly

Twenty-two patients with upper extremity syndactyly (58 webs) have been treated in the last decade (1976 to 1985) by one hand surgeon using one technique. Nineteen patients had syndrome complexes or other associated anomalies that made treatment more difficult. The postoperative follow-up averaged 4 years. The rate of complications that necessitated repeat operations (5% of the treated webs) was relatively low in comparison with those in other series. We attribute this to better timing of the procedure and progressive experience gained by one surgeon using the same procedure.

Chondrolysis : detection by bone scintigraphy

Premature closure of the physis of the greater trochanter has been reported to be a predictive sign of chondrolysis in hips with slipped capital femoral epiphysis (SCFE). In the present series, the physis of the greater trochanter showed decreased activity on bone scintigraphy in 16 patients with SCFE and concurrent or developing chondrolysis. In five of these patients, the scintigraphic pattern (decreased activity of the physis of the greater trochanter) preceded radiographic changes of chondrolysis. In 13 patients with SCFE without chondrolysis, the physis of the greater trochanter appeared normal on scintigrams and open on radiographs. Use of scintigraphy in patients with SCFE permitted earlier recognition of chondrolysis, increasing the potential of altering the course of the disease.

Obturator dislocation as a complication of closed reduction of the congenitally dislocated hip: a report of two cases.

Two cases of inferior obturator dislocation complicating treatment of congenital hip dislocation with closed reduction are described. Abduction and hyperflexion appear to be predisposing factors in development of this complication. Application of skin traction before any attempt is made at reduction will lengthen contracted soft tissues and may convert the inferior dislocation to a more manageable position. Open reduction was necessary in both patients, and the results were considered good.

INTRASPINAL EPIDERMOID TUMORS IN CHILDREN : PROBLEMS IN RECOGNITION AND IMAGING TECHNIQUES FOR DIAGNOSIS

Iatrogenic intraspinal epidermoid tumors are very rare. The similarity of the clinical manifestations of the tumor with other childhood problems can pose a problem in diagnosis. In addition, because of the lag in time between the lumbar puncture and the development of a symptomatic tumor, this relationship is overlooked and can cause a delay in diagnosis, as in the present report of four children. Magnetic resonance imaging was found to be superior to myelography in defining the tumor and its relationship to other structures inside the dural sac. All patients underwent surgical excision, with subsequent resolution of symptoms.

Prenatal diagnosis of musculoskeletal anomalies

Musculoskeletal anomalies are not uncommon in prenatal life. They can be either sporadic or part of chromosomal syndromes causing prenatal morbidity and mortality. The prenatal diagnosis of musculoskeletal anomalies is based on information assembled from various imaging modalities and from biochemical and genetic workups. The prenatal diagnosis can serve as a prognostic tool and in counseling the parents. Among the imaging methods, ultrasonography is the most popular and cost effective in observing and following fetal development from the very early stages of gestation. Transvaginal sonography can detect and identify most of the normal and the specific pathologic changes very close to the stage of their embryogenic development. From a practical point of view, early detailed transvaginal sonography screening at 14 to 15 weeks of gestation is very useful while late detection at 20 to 23 weeks of gestation may provide some additional information in low-risk pregnancies. Very early screening, even during the ninth week, may be indicated in high-risk pregnancies. Additional genetic counseling is recommended when abnormal findings are suspected. We summarize the diagnostic approach and the information available for the most common musculoskeletal anomalies.

Double fingernails on the small fingers

This report describes the unusual presence of dorsal skin and a fingernail on the palmar surface of both small fingers, with a normal nail on the dorsal surface. This child has a normal karyotype. There has been one previous report in the literature of a similar anomaly associated with a chromosome 6 abnormality.

Avascular necrosis of the capital femoral epiphysis in metachondromatosis

A 6-year-old boy with metachondromatosis, an inherited disorder characterized by multiple enchondromas and exostoses, developed avascular necrosis of the capital femoral epiphysis mimicking Perthes disease. Despite containment, significant coxa magna occurred with flattening and lateral extrusion, requiring intertrochanteric osteotomy and shelf augmentation.

Macrodactyly involving both hands and both feet

A case is reported of a child with macrodactyly of both hands and both feet and very rare postaxial involvement of the upper limbs.