Isolated lower limb hypoplasia secondary to congenital varicella syndrome: a rare occurrence and management of its complications.

Isolated lower limb hypoplasia is a rare consequence of maternal congenital varicella syndrome (CVS). The hypoplastic limb is susceptible to multiple injuries, including fractures, especially if there is associated muscle weakness and lack of sensation. We describe a unique index case of a woman aged 26 years with a background of CVS who presented with a distal femur fracture following a fall onto her insensate, hypoplastic right leg. This report highlights the complexities involved in the diagnosis and management of fractures in patients with an anaesthetic limb, and in particular describes limb amputation as a successful treatment modality for distal femur fractures.

[Femoral fracture in congenital femoral deficiency. A therapeutic challenge?]. / Femurfraktur bei kongenitalem Femurdefekt. Eine therapeutische Herausforderung?

There are no reports in the literature about femoral fractures in adults with congenital femoral deficiency. We report on a femoral fracture in a 60-year-old patient with congenital femoral deficiency. Despite early difficulties in mobilisation and delayed union after an angle-stable plate osteosynthesis, full weight bearing was reached after 8 months. The treatment of fractures in combination with congenital femoral deficiency remains difficult and depends on the extent of the defect, the complexity of the fracture, and associated anomalies. The objective of the often demanding operative treatment of a femoral fracture in combination with a congenital femoral deficiency should be reestablishment of the patient's walking ability.

Síndrome de Bruck: osteogénesis imperfecta con contracturas articulares congénitas / Bruck syndrome: Osteogenesis imperfecta with congenital joint contractures

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Un raro traumatismo obstétrico: fractura desplazada de metáfisis femoral en un recién nacido sano / A rare obstetrical injury: displaced fracture of femoral metaphysis at birth in an otherwise healthy infant

Se presenta el caso de un niño varón, nacido a término por cesárea en presentación podálica, tras el parto, sin realización de maniobras obstétricas agresivas, presentó una fractura oblicua y desplazada de la metáfisis femoral. En este artículo se anliza tanto la forma atípica de presentación clínica como de localización, y se evalúa la respuesta al tratamiento y las posibles secuelas durante el primer año de vida

In this article, we report the case of a male infant who was delivered by cesarean section due to breech presentation. After the delivery, which had not involved the performance of aggressive obstetrical maneuvers, it was discovered that he had sustained a displaced fracture of the femoral metaphysis. In this article, the authors analyze both the atypical clinical presentation and fracture site, as well as the response to treatment and sequelae throughout his first year of life

Fractura de fémur en un neonato / Femur fracture in a neonate

La fractura de fémur es una infrecuente lesión obstétrica, se caracteriza por presentarse por diferentes causas ya sean maternas, obstétricas o del feto. Las manifestaciones clínicas pueden pasar desapercibidas en un primer momento, basándose el diagnostico en la sospecha clínica y confirmándose el diagnostico en la sospecha clínica y confirmándose mediante la radiografía. El tratamiento consisten en la inmovilización de la extremidad durante unas 4 semanas, el pronóstico de la lesión es excelente. Prestamos un caso clínico de una fractura de fémur en un recién nacido por cesárea en una gestación gemelar por presentación podálica del primer gemelo (AU)

Fémur fracture is an infrequent obstetrical injury. It is characterterized to appear for different causes: maternal, obstetrical or fetus related. Clinical manifestations of the injury could be unnoticed at a first moment. Diagnose is based in clinical suspicion and confirmed by x-ray. The treatment consists in the immobilization of the extremity during 4 weeks, prognosis is excellent. We present a clinical case of a femur fracture in a new born by a cesarean in a gemelar gestaction caused by a podalic presentation of the first neonate (AU)

Spinal muscular atrophy variant with congenital fractures.

A single report of brothers born to first-cousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and muscle biopsies were consistent with a form of spinal muscular atrophy. Molecular studies identified no abnormality of the SMN(T) gene on chromosome 5. This case serves to validate the suggestion of a distinct and rare form of spinal muscular atrophy while not excluding possible X-linked inheritance.

Unusual fetal movement in congenital myotonic dystrophy.

Congenital myotonic dystrophy is the most extreme and early expression of a multisystem autosomal dominant disorder. Decreased fetal and infantile movement is a defining feature. We report a case of congenital myotonic dystrophy with an unusual pattern of persistent repetitive fetal movements detected by a Doppler fetal movement detector.

Correction of deformity after femoral birth fracture. 16-year follow-up.

At birth a girl sustained a displaced femoral fracture that healed with considerable shortening and angulation. The correction by growth of the deformity was followed radiographically during the entire 16-year growth period.

Perinatal fractures in arthrogryposis multiplex congenita.

Thirty-six patients with arthrogryposis have been followed at The James Lawrence Kernan Hospital of Baltimore since 1951. In this group, nine patients sustained 16 perinatal fractures. Femoral shaft fractures and epiphyseal separations were found more commonly in patients with fixed knee extension or dislocated hips and were related to relative stiffness and obstructed delivery. Femoral fractures were more common than humeral or tibial fractures. Arthrogrypotic infants displaying irritability and poor feeding are suspect of skeletal trauma. Thickening of limbs or joints may be the only clinical indication of fracture of epiphyseal injury. Plain radiographs of joints were inadequate for the diagnosis of epiphyseal separation when the epiphysis was not yet ossified. Arthrography is therefore recommended as a primary diagnostic tool.

[The operative treatment of the subtrochanteric pseudarthrosis of the femur in the case of pffd (author's transl)]. / Die operative Behandlung der subtrochanteren Oberschenkelpseudarthrose bei ektromelen Dysmelien

The authors discuss 7 cases of congenital subtrochanteric pseudarthroses of the femur which do not fit into the traditional schemes--neither from the histologically nor from the X-ray aspects. A valgus angulation osteotomy was carried out in each case. The procedure depending on the acutness of the angle. The results are positive.