Presentation
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
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.de]
Clinical description Patients present with severe respiratory distress (requiring intubation) during the neonatal period. [rarediseases.info.nih.gov]
Wandering spleen presenting as duodenal obstruction after repair of congenital diaphragmatic hernia. Journal of Pediatric Surgery. 32: 1790-2. [academictree.org]
ATD is inherited as a recessive trait with significant variablility of clinical course, and fairly constant radiographic presentation. [czytelniamedyczna.pl]
Immune System
- Splenomegaly
Progressive splenomegaly was thought to be related to progression of MDS and chronic G-CSF exposure as imaging showed no evidence of portal hypertension. [bmcpediatr.biomedcentral.com]
Spinocerebellar degeneration corneal dystrophy Spinocerebellar degenerescence book type Spir Spirochetes disease Spirurida infections Spl Spleen neoplasm Splenic agenesis syndrome Splenic flexure syndrome Splenogonadal fusion limb defects micrognatia Splenomegaly [sosu.us]
Entire Body System
- Recurrent Urinary Tract Infection
The surgical and medical treatment of recurrent urinary tract infections in childhood. Journal of Pediatric Surgery. 8: 125-33. PMID 4572750 DOI: 10.1016/S0022-3468(73)80076-4 0.92 1972 Wesselhoeft CW, Porter A, Deluca FG. [academictree.org]
- Inguinal Hernia
Incidence of contralateral inguinal hernia: a prospective analysis. Journal of Pediatric Surgery. 34: 684-7; discussion 68. [academictree.org]
Respiratoric
- Respiratory Distress
Clinical description Patients present with severe respiratory distress (requiring intubation) during the neonatal period. [rarediseases.info.nih.gov]
These symptoms can result in respiratory distress or frequent chest infections, and can affect survival during infancy. [novusbio.com]
distress (requiring intubation) during the neonatal period. [malacards.org]
Severe respiratory distress was present immediately after birth. She was admitted to intensive care unit died at the age of 5 days. [czytelniamedyczna.pl]
Where this is accompanied by respiratory distress, asphyxiating thoracic dystrophy (ATD, Jeune syndrome) is an important potential diagnosis. [bmcpediatr.biomedcentral.com]
- Labored Breathing
After delivery, the neonate underwent laryngoscopy-bronchoscopy with successful intubation in the operating room because of labored breathing. Airway evaluation revealed subglottic stenosis, tracheomalacia/bronchomalacia. [ncbi.nlm.nih.gov]
Gastrointestinal
- Hematemesis
Prolapsed hyperplastic gastric polyp causing gastric outlet obstruction, hypergastrinemia, and hematemesis in an infant Journal of Pediatric Surgery. 27: 1537-1538. PMID 1469565 DOI: 10.1016/0022-3468(92)90498-V 0.92 1992 Ahrendt MN, Wesselhoeft CW. [academictree.org]
- Intestinal Perforation
Peritoneal drainage as definitive treatment for intestinal perforation in infants with extremely low birth weight ( Journal of Pediatric Surgery. 33: 370-2. [academictree.org]
Skin
- Flushing
Specific questioning to exclude well-recognised causes of bone marrow failure revealed that UPN1 had passed 1‐2 stools per day throughout her life, which were yellow, offensive and difficult to flush. [bmcpediatr.biomedcentral.com]
- Ulcer
EN Dysplasia in Ulcerative Colitis is a medical term. TR Dysplasia in Ulcerative Colitis tıbbi bir terimdir. EN Absence of Bone Marrow Dysplasia is a medical term. TR Absence of Bone Marrow Dysplasia tıbbi bir terimdir. [yeminlisozluk.com]
Musculoskeletal
- Normal Stature
Abstract We review a family in which a mother and two of her three children suffered a distinct syndrome of thoracic dystrophy with small chest volume, laryngeal stenosis, normal stature with variable asymmetry, asthenic build, and a small pelvis. [jmg.bmj.com]
Urogenital
- 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.de]
Workup
X-Ray
- Posterior Mediastinal Mass
Chordoma presenting as a posterior mediastinal mass in a pediatric patient. Journal of Pediatric Surgery. 27: 1515-8. PMID 1469556 DOI: 10.1016/0022-3468(92)90489-T 0.92 1988 Goldman IL, Caldamone AA, Gauderer M, Hampel N, Wesselhoeft CW, Elder JS. [academictree.org]
Ultrasound
- 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.de]
Other Pathologies
- Small Liver
EN Small Liver Cell Dysplasia is a medical term. TR Small Liver Cell Dysplasia tıbbi bir terimdir. EN Myeloid Dysplasia of Mouse is a medical term. TR Myeloid Dysplasia of Mouse tıbbi bir terimdir. EN Mostotic Fibrous Dysplasia is a medical term. [yeminlisozluk.com]
Treatment
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
The treatment of omphalocele and gastroschisis. Annales De Chirurgie Infantile. 13: 237-44. PMID 4266684 0.92 1972 Wesselhoeft CW, Porter A, DeLuca FG. Treatment of omphalocele and gastroschisis. American Journal of Surgery. 123: 369-73. [academictree.org]
Proceedings of the New Zealand Grassland Association 58: 141-146, 1996 More options, more considerations: how new treatment options influence clinical decision making. [eurekamag.com]
Treatment - Thoracopelvic dysostosis Not supplied. Resources - Thoracopelvic dysostosis Not supplied. [checkorphan.org]
Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]
Prognosis
Prognosis - Thoracopelvic dysostosis Not supplied. Treatment - Thoracopelvic dysostosis Not supplied. Resources - Thoracopelvic dysostosis Not supplied. [checkorphan.org]
A correct diagnosis and typing of the skeletal disorder is essential for the prognosis as is genetic counseling of the family. [journals.lww.com]
They proposed that even severely affected patients may have a favorable prognosis given new neonatal intensive care treatment options. clinical managemen...nical-management] {3:Barnes et al. (1971)} reported successful thoracic reconstruction in a child [bio2rdf.org]
Accurate diagnosis of these children has major implications for management, prognosis, and counselling of the affected individuals and their families. [bmcpediatr.biomedcentral.com]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
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
Epidemiology Prevalence is unknown but less than 10 cases have been reported in the literature so far. Clinical description Patients present with severe respiratory distress (requiring intubation) during the neonatal period. [rarediseases.info.nih.gov]
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]
Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med. 2005 Feb; 7(2):147-50. PMID: 15714084. Citations: 10 Fields: Translation: Humans Gennaccaro M, Waisbren SE, Marsden D. [connects.catalyst.harvard.edu]
Prevention
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Prevention - Thoracopelvic dysostosis Not supplied. Diagnosis - Thoracopelvic dysostosis The diagnosis is made by clinical and radiologic findings including thoracic dystrophy, a small contracted pelvis and laryngeal and subglottic stenosis. [checkorphan.org]