Jeune syndrome in a pediatric patient: A clinical case report
DOI:
https://doi.org/10.24265/horizmed.2018.v18n3.12Keywords:
Neonatal diseases, Bone dysplasia, Genetic diseasesAbstract
Jeune syndrome is a low frequency, autosomal recessive and potentially life-threatening skeletal dysplasia. From a clinical perspective, it has a wide variety of manifestations; however, it is commonly characterized by a narrow thorax; secondary pulmonary hypoplasia; brachymelia; and pelvic, cardiac and renal abnormalities. Lung involvement is variable and may be lethal. The diagnosis may be suspected prenatally through an ultrasonography, by measuring the thoracic and rib cage circumference, and studying the relation between them and with the abdominal circumference. This article describes the clinical case of a 3-month-old female patient with a mild disease presentation and postnatal diagnosis.
Downloads
References
Chen H. Asphyxiating thoracic dystrophy (Jeune Syndrome). eMedicine, 2009.
N Morgan, C Bacchelli, P Gissen, J Morton, G Ferrero, M Silengo, et al. A lócus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. J Med Genet. 2003;40(6):431-435.
Acastello E, Garrido P. Actualización de la clasificación de las malformaciones congénitas de la pared torácica: 22 años de experiencia en un hospital pediátrico. Rev Med Clin Condes. 2009;20(6): 758-767.
Orfaliais CS, March MFP, Ferreira S, Alves R, Sant’Anna CC. Distrofia torácica asfixiante de Jeune: relato de 3 casos. J Pediatr. 1998; 74(4):333-337.
Schwartzstein RM. Chest wall diseases and restrictive physiology. Post TW, ed. UpToDate. Waltham, MA: UpToDate Inc.2018
Díaz ZS. Displasia torácica asfixiante o síndrome de Jeune. Rev Chil Obstet Ginecol. 2003; 68(4): 322-6.
Do Ngoc TC, Barois A, Estournet MB, Bataille J, Ioos C. Jeune’disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation. Bull Acad Natl Med. 2007; 191(7): 1411-29.
Rodriguez Molinero L, ]imenez Mena E, Muro Tudelilla LM, Gonzalez Perez A, Rodriguez Sanchez C, Fernandez de las Heras F. Distrofia torácica asfixiante o enfermedad de Jeune. Bol Pediatr. 1990; 31:135-139.
Niaudet P. Clinical manifestations, diagnosis, and treatment of nephronophthisis. Post TW, ed. UpToDate. Waltham, MA: UpToDate Inc.2018.
Elcioglu NH, Hall CM. Diagnostic dilemmas in the short ribpolydactyly syndrome group. Am J Med Genet. 2002; 111(4): 392-400.
Casteels I, Demandt E, Legius E. Visual loss as the presenting sign of Jeune syndrome. Eur J Paediatr Neurol. 2000; 4(5): 243-7.
Jankauskiene A, Bernatoniene J. Clinical quiz. Jeune syndrome. Pediatr Nephrol. 2000; 14: 1054-6.
Zanelli SA. Asphyxiating Thoracic Dystrophy (Jeune Syndrome). Post TW, ed. UpToDate. Waltham, MA: UpToDate Inc.2018.
Sahin N, Kara H, Ertugrul F, Aydogdu T, E İcel. Jeune Sendromu ve Anestezi. Turkiye Klinikleri. J Anest Reanim. 2007; 5(3):150- 153.
Borland LM. Anesthesia for chilren with Jeune’s Syndrome (asphyxiating thoracic dystrophy). Anesthesiology. 1987; 66(1):86-88.
Schinzel A, Savoldelli G, Briner J, Schubiger G. Prenatal sonographic diagnosis of Jeune Syndrome. Radiology. 1985:154 (3):777-778.
Davis JT, Ruberg RL, Leppink DM, McCoy KS, Wright CC. Lateral thoracic expansion for Jeune’s asphyxiatin dystrophy: a new approach. Ann Thorac Surg. 1995; 60(3):694-696.
Davis JT, Heistein JB, Castile RG, Adler B, Mutabagani KH, Villalobos RE, et al. Lateral thoracic expansion for Jeune’s syndrome: midterm results. Ann Thorac Surg. 2001; 72(3):872-877.
Published
How to Cite
Issue
Section
License
Copyright (c) 2018 Horizonte Médico (Lima)
This work is licensed under a Creative Commons Attribution 4.0 International License.
Horizonte Médico (Lima) (Horiz. Med.) journal’s research outputs are published free of charge and are freely available to download under the open access model, aimed at disseminating works and experiences developed in biomedical and public health areas, both nationally and internationally, and promoting research in the different fields of human medicine. All manuscripts accepted and published in the journal are distributed free of charge under the terms of a Creative Commons license – Attribution 4.0 International (CC BY 4.0).
