cd8 deficiency is a rare primary immunodeficiency with low or absent peripheral cd8 cells which results from tap deficiency, zap 70 deficiency and cd8 α gene mutation. we report a 14 year old female who presented with a history of recurrent pneumonia, bronchiectasis, otitis, severe varicella, herpetic lesions of mouth, bilateral uveitis, and cataract formation since the age of 8 years. she had ...

We report a case of the Antley-Bixler syndrome in an 11-year-old girl. She presented with bilateral proximal femoral focal deficiency, right clubfoot, left radiohumeral synostosis, bilateral ear hypoplasia, cleft palate, tongue tie, missing teeth, congenital heart disease, a pelvic kidney with hydronephrosis, and mental retardation. Proximal femoral focal deficiency has never been reported befo...

Bilateral femoral agenesis is a rare anomaly.  To the best of our knowledge, only three cases of simple congenital anomaly and three cases associated with femoral facial syndrome have been reported.  Here, we describe a simple form of bilateral femoral agenesis observed in one of the 2 dead fetuses delivered after termination of a 24-week twin pregnancy of a normal mother.  Post-mortem x-ray ex...

A case of unilateral proximal femoral focal deficiency (PFFD) and the Robin anomalad is reported. Since bilateral PFFD and unusual facies have been reported before, we suggest an association between the Robin anomalad and PFFD.

bilateral femoral agenesis is a rare anomaly.  to the best of our knowledge, only three cases of simple congenital anomaly and three cases associated with femoral facial syndrome have been reported.  here, we describe a simple form of bilateral femoral agenesis observed in one of the 2 dead fetuses delivered after termination of a 24-week twin pregnancy of a normal mother.  post-mortem x-ray ex...

Background:Prenatal ultrasound plays an important role in the early and accurate evaluation of the congenital skeletal and non-skeletal abnormalities of the fetus and is effective in predicting pregnancy outcomes. Congenital femoral deficiency (CFD) is a rare complicated and non-hereditary anomaly that includes the hypoplasia of a portion of the femoral bone with shortening the lower limb. Cas...

The purpose of this study was to investigate in vivo three- dimensional tibiofemoral kinematics and femoral condylar motion in knees with anterior cruciate ligament (ACL) deficiency during a knee bend activity. Ten patients with unilateral ACL rupture were enrolled. Both the injured and contralateral normal knees were imaged using biplane radiography at extension and at 15°, 30°, 60°, 90°, and ...

In this report, we describe the case of a healthy 37-year-old male patient without a history of disease, who developed atraumatic bilateral fracture of the femoral neck. Radiological and blood investigations revealed osteopenia and severe vitamin D deficiency (7.42 ng/mL), respectively, but patient had no apparent risk factors for insufficiency fracture. Bilateral osteosynthesis was obtained us...

Vitamin D deficiency occurs in up to 24% of the Asian immigrant population in the United Kingdom, but pathological fractures are relatively uncommon. We report a case of bilateral fracture of the femoral neck caused by a convulsion secondary to dietary-induced hypocalcaemia. To our knowledge such a sequence has not previously been reported.