By dr. vijay sharma asphyxiating thoracic dysplasia (jeune syndrome) copy
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This document discusses Asphyxiating thoracic dysplasia (Jeune syndrome), a rare skeletal dysplasia characterized by a short, narrow chest cavity, cystic kidney dysplasia, and skeletal abnormalities. It has an incidence of 1 in 70,000 to 130,000 births. Affected infants often have respiratory complications from pulmonary hypoplasia and renal failure from cystic kidney disease. Those who survive may develop hepatic fibrosis. Clinical features include short limbs, polydactyly, dysplastic hips and limbs. It is thought to be an autosomal recessive condition.
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The document discusses x-rays and how to read different types of x-rays including those of the gastrointestinal tract, biliary system, urogenital system, and vascular system. It provides details on how to analyze barium swallows, angiograms, and other imaging studies. The document also describes common conditions that are diagnosed using medical imaging like achalasia, hiatal hernia, and esophageal cancer.
SKELTAL DYSPLASIA.pptx
This document outlines the objectives, techniques, and diagnostic approach for assessing fetal skeletal dysplasias using ultrasound. It discusses systematically examining the long bones, thorax, hands/feet, skull, spine, and pelvis. Diagrams provide diagnostic algorithms based on abnormalities in the limbs, thorax, and skull. Common skeletal dysplasias are illustrated, including limb deficiencies, thanatophoric dysplasia, osteogenesis imperfecta, and others. Additional findings like cardiac or renal anomalies are also noted. The goal is to correlate ultrasound findings to arrive at a differential diagnosis and evaluate prognosis.
Prune belly syndrome.pptx
Prune belly syndrome is a rare birth defect that primarily affects males. It involves underdevelopment of the abdominal wall muscles, dilation of the kidneys and ureters, and undescended testes in males. It has no known cause but is thought to involve a mesenchymal insult early in fetal development. Affected individuals can have a range of severity from stillbirth to mild cases with preserved kidney function. Diagnosis involves ultrasound and imaging of the urinary tract to assess the abnormalities present.
Ultrasound image gallery
ADACTYLY IN FETUS
PORENCEPHALIC CYST IN FETUS
SEPTO-OPTIC DYSPLASIA IN FETUS
MUSCLE HERNIA IN ADULT
FETAL REDUCTION
AGENESIS OF CORPUS CALLOSUM
FLAT FETAL FACIAL PROFILE
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This document summarizes imaging findings in skeletal dysplasias. It discusses over 20 different conditions classified into groups based on genetic and phenotypic characteristics. Key radiological features are provided for common dysplasias like achondroplasia and spondyloepiphyseal dysplasia. A skeletal survey approach is outlined to identify clues for diagnosis. Prenatal imaging and multidisciplinary evaluation are important for diagnosis and genetic counseling.
Sternal/ Chest wall deformities and Tumors
1. Pectus excavatum and pectus carinatum are the most common anterior chest wall deformities, with pectus excavatum occurring more frequently.
2. The Ravitch procedure and Nuss procedure are two common surgical techniques used to repair pectus excavatum, with Ravitch being an open resection and Nuss being minimally invasive.
3. Chest wall tumors can be either benign or malignant, with malignant tumors like fibrous histiocytoma and chondrosarcoma requiring wide resection for treatment.
The esophagus
The document summarizes key aspects of the esophagus anatomy and diseases. It describes that the esophagus transports ingested food through three parts and is lined by stratified squamous epithelium. Common diseases include congenital disorders like atresia, acquired disorders like achalasia and hiatal hernia, inflammations like reflux esophagitis, and tumors. Specific conditions discussed in more detail include achalasia, where the lower esophageal sphincter fails to relax, and varices, which form due to portal hypertension in conditions like liver cirrhosis.
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Dr. Fatima Cheema is an expert in laparoscopic diaphragmatic hernia repair. A diaphragmatic hernia occurs when abdominal organs protrude through an abnormal opening in the diaphragm. Dr. Cheema's credentials document details the anatomy of the diaphragm, types of hernias, diagnosis, and surgical repair technique. Her laparoscopic approach involves creating a pneumoperitoneum, inserting ports, reducing the hernia sac, repairing the diaphragm with mesh, and closing wounds. Key steps and potential complications are outlined to demonstrate her expertise in safely performing this advanced minimally invasive surgery.
Presentation1.pptx, radiological imaging of spinal dysraphism.
This document discusses radiological imaging in spinal dysraphism. It describes how various imaging modalities such as radiography, ultrasound, CT, and MRI can be used to identify and characterize different types of spinal dysraphism including open dysraphism, closed dysraphism, lipomyelomeningocele, diastematomyelia, dermal sinus, and tethered cord. Examples of imaging findings for each condition are provided with representative images to illustrate the pathology.
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This document provides information on tuberculosis of the skeletal system, with a focus on vertebral tuberculosis. It begins with an introduction and history of the topic. It then discusses the epidemiology, pathogenesis, clinical presentation, investigations including imaging findings, laboratory tests, classifications, treatment approaches including drug regimens and surgical indications and techniques. Key points covered include the high prevalence of skeletal TB in India, typical radiological features, classification of neurological deficits, Tuli's middle path treatment regime, and various surgical approaches for abscess drainage and spinal decompression/stabilization.
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By dr. vijay sharma asphyxiating thoracic dysplasia (jeune syndrome) copy
- 1. ASPHYXIATING THORACIC DYSPLASIA (JEUNE SYNDROME)-A RARE CASE BY Dr. VIJAY JWALA SHARMA JR-II, DEPARTMENT OF RADIODIAGNOSIS, Dr. MANALI RAHALKAR (AP) B.J.GOVT.M.C.SASSOON HOSPITAL PUNE
- 2. INTRODUCTION • Asphyxiating thoracic dysplasia or Jeune syndrome, is a type of rare short limb dysplasia which is primarily characterized by short constricted narrow thoracic cavity, cyst renal dysplasia and skeletal dysplasia. • Incidence is 1 in 70,000 to 130,000 births. • The perinatal mortality is high as a result of pulmonary hypoplasia. • Those who survive develop renal & hepatic fibrosis.
- 3. Clinical spectrum Thoracic: 1. Short narrow elongated chest- may be seen as narrow fetal thorax antenatally. Other skeletal: 1. Polydactyl (often post axial) 2. Dysplastic acetabulum 3. Short distal limbs (rhizomelic brachymelia) Abdomino-pelvic: 1. Cystic renal disease 2. Cystic pancreatic disease 3. Hepatic cysfunction
- 6. Dysplastic lower limb (a) UB
- 7. Dysplastic lower limb (b)
- 8. Dysplastic upper limb (a) AF
- 9. Dysplastic upper limb (b)
- 10. Pelvis
- 12. Pathology It is thought to be an autosomal recessive condition.
- 13. Complication Development of pulmonary hypoplasia Renal failure due to cystic renal disease Development of hepatic fibrosis.
- 14. Prognosis • Most of patients die to respiratory compromise. • Those who survive can have improvement in thoracic deformity due to growth of thoracic cage after birth. • However patient has to live with limb deformity.