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Asphyxiating Thoracic Dysplasia

Asphyxiating Thoracic Dysplasia [jeune]


  • Brachydactyly and postaxial polydactyly are sometimes present and involve the feet more commonly than the hands. Short stature secondary to short limbs is frequently noted.[disorders.eyes.arizona.edu]
  • ATD is inherited as a recessive trait with significant variablility of clinical course, and fairly constant radiographic presentation.[czytelniamedyczna.pl]
  • Thus some cases are lethal whereas other patients present with mild symptoms.[neocyst.de]
  • Renal and liver diseases occurred respectively in 17% and 22% of cases, whereas retinal alteration was present in 50% of cases aged more than 5 years. We identified DYNC2H1 mutations in 23 families (59%) and IFT80 mutations in two families (5%).[ncbi.nlm.nih.gov]
  • Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations.[books.google.com]
Severe Clinical Course
  • We report two patients ATD, one asymptomatic and one with severe, clinical course and fatal outcome. Case report Patient 1 This boy was born after uncomplicated pregnancy and delivery.[czytelniamedyczna.pl]
Normal Stature
  • The seventh child is remarkable for his normal stature and excellent health at 15 years of age. 3 babies had no respiratory difficulty but 2 of them subsequently died of renal failure; one remains alive at 3 years.[ncbi.nlm.nih.gov]
Short Hands
  • The major distinctive clinical features are long, narrow thorax, short extremities, short hand, progressive renal disease and hepatic fibrosis (4,5).[czytelniamedyczna.pl]
Pelvic Pain
  • Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound[books.google.com]


  • Workup Laboratory studies recommended in JS include urinalysis (for hematuria, proteinuria, defective urine concentrating capacity) and arterial blood gas ( ABG ) sampling (since hypoxia and hypercarbia in room air reflect severe restrictive lung disease[emedicine.medscape.com]
Ovarian Mass
  • Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses).[books.google.com]


  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • The cognitive development in patients is most often not affected. treatment No causal treatment available. A multidisciplinary care is necessary. Known genes for Jeune asphyxiating thoracic dyplasia to date sources Huber C, Cormier-Daire V.[neocyst.de]
  • Treatment is symptomatic, and is aimed at improving respiratory function, treating respiratory infection, and alleviating renal or hepatic symptoms.[news-medical.net]
  • Treatment Treatment Options: Assisted ventilation can be lifesaving in milder cases. Thoracic reconstruction has also been helpful in a few individuals.[disorders.eyes.arizona.edu]
  • […] premature closure of capital femoral epiphysis short broad phalanges short distal limbs ( acromelic dwarfism) polydactyly (often post axial): 14% 4 coned epiphyses Abdominopelvic cystic renal disease cystic pancreatic disease 9 hepatic dysfunction 9,11 Treatment[radiopaedia.org]


  • The long-term follow up emphasizes that the pulmonary prognosis is probably less pejorative and retinal involvement more frequent than previously thought.[ncbi.nlm.nih.gov]
  • The prognosis can be variable as a result of the marked phenotypic variation.[radiopaedia.org]
  • The neonatal prognosis depends on the degree of pulmonary hypoplasia and respiratory distress. 20 – 60 % of cases die within the first weeks of life.[neocyst.de]
  • Prognosis Prognosis depends on the initial severity of bone malformations and the age.[news-medical.net]
  • 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.[slideshare.net]


  • Etiology Only gold members can continue reading. Log In or Register to continue Dec 21, 2015 Posted by in PEDIATRIC IMAGING Comments Off on 121 Asphyxiating Thoracic Dystrophy[radiologykey.com]
  • Dysplasia Prevalence Etiology Prognosis Features Thanatophoric dysplasia 1 in 10,000 Sporadic Lethal Limbs: very short. Thorax: narrow. Trunk: normal. Head: large with prominent forehead. Type I Femurs: curved (telephone receiver).[fetalmedicine.org]
  • Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004; 424:183–190. Copyright 2016 Wolters Kluwer Health, Inc. All rights reserved.[journals.lww.com]


  • Epidemiology Incidence is in the region of 1/4,000 births. [ 1 ] Lethal skeletal dysplasias are estimated to occur in 0.95 per 10,000 deliveries.[patient.info]
  • Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet A 2012; 158A:1038–1045. 4. Camera G, Mastroiacovo P. Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects.[journals.lww.com]
Sex distribution
Age distribution


  • Pathophysiology The basic pathophysiological defect in Jeune syndrome is defective ciliary production. Cilia are cell surface structures which are now known to be involved in many life processes.[news-medical.net]


  • Prevent and treat kidney or liver problems that can lead to kidney failure. Prevent and treat heart problems that affect some children with Jeune syndrome.[seattlechildrens.org]
  • These examples discussed of preventive ophthalmology, if justified and successful, would have a negligible effect on the prevalence of blindness, but at the individual and family level could prevent much misery.[healio.com]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] Asphyxiating thoracic dystrophy Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest[icdlist.com]
  • Early surgical interventions include fusion of the vertebrae to prevent twisting and turning and insertion of custom manufactured expandable instruments called “growing rods.”[managedcaremag.com]
  • TIS is a congenital condition where severe deformities of the chest, spine, and ribs prevent normal breathing and lung development.[rarediseases.org]

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