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      Sindrome de Jeune: presentación de un caso clínico Translated title: Jeune syndrome: case report


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          El Síndrome de Jeune fue descrito en 1956 como Displasia Torácica Asfixiante (DTA). Su incidencia es de 1 por cada 100.000 recién nacidos vivos. En Venezuela el primer caso fue descrito por Urdaneta Carruyo en 1986. Forma parte de los síndromes con displasia/hipoplasia costal con/sin polidactilia. Es la insuficiencia respiratoria, por hipoplasia pulmonar, la causa más frecuente de muerte. En vista de ser un síndrome de presentación poco común con una alta mortalidad, se presenta un caso de una escolar de 11 años (diagnosticado desde los 10 meses), con tórax estrecho, braquimelia y rizomelia. Toracoplastia a los 9 años de edad en busca de una expansión torácica. Fallece a los 11 años de edad. Conclusiones: El síndrome de Jeune es una entidad poco frecuente que compromete la vida del paciente; tiene un patrón de herencia autosómica recesiva y requiere consejo genético a los padres y un equipo multidisciplinario para su abordaje y manejo.

          Translated abstract

          Jeune Syndrome was described in 1956 as Thoracic dysplasia Asphyxiant (DTA). Its incidence is 1 per 100,000 live births. In Venezuela the first case was described by Urdaneta Carruyo in 1986. It is a member of the family of the short-rib polydactyly syndromes. Respiratory failure, secondary to pulmonary hypoplasia, it is the most common cause of death. Because DTA is a rare syndrome with a high mortality presentation, we were motivated to report the case of a 11 year old girl (diagnosed at 10 months of age), with a narrow thorax, and variable limb shortness. Thoracoplasty was performed at 9 years of age in order to achieve thoracic expansion. The patient died at 11 years of age. Conclusions: Jeune syndrome is a rare entity, which compromises the life of the patient; it has autosomal recessive inheritance pattern and requires genetic counseling to parents and a multidisciplinary management.

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          Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.

          Three children with Jeune syndrome (asphyxiating thoracic dystrophy) had clinical and laboratory evidence of liver disease. In two patients the disease evolved to biliary cirrhosis, whereas in the third it was recognized when extensive fibrosis was developing. In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction. Copyright 1999 Wiley-Liss, Inc.
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            A family with Jeune syndrome.

            Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short-limbed dwarfism. Seventy percent of affected individuals die in early childhood from pulmonary hypoplasia and respiratory distress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. We report a family that exhibited clinically heterogeneous features of Jeune syndrome. The 6-year-old male proband presented with skeletal deformities and chronic renal failure. A kidney biopsy revealed that nephronophthisis was the cause of the patient's kidney failure, and we diagnosed Jeune syndrome. A retrospective diagnosis of Jeune syndrome was also established for the proband's older sister, who had died of renal failure at 8 years of age. The oldest female child in the family also had thoracic deformity, and the father and paternal uncle were both of short stature and exhibited brachydactyly. Their renal function and blood pressure were normal. The findings in this family are important in that they demonstrate the clinical heterogeneity of Jeune syndrome and underline the association of renal disease with this syndrome.
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              DYNC2H1 gene mutations cause asphyxiating thoracic dystrophy and short ribs and polydactyly (SRPS acronym in English) type III syndrome


                Author and article information

                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Archivos Venezolanos de Puericultura y Pediatría
                Arch Venez Puer Ped
                Sociedad Venezolana de Puericultura y Pediatría
                December 2015
                : 78
                : 4
                : 116-119



                SciELO Venezuela

                Self URI (journal page): http://www.scielo.org.ve/scielo.php?script=sci_serial&pid=0004-0649&lng=en
                HEALTH POLICY & SERVICES

                Pediatrics,Health & Social care,Public health
                Asphyxiating Thoracic dysplasia,Displasia Torácica Asfixiante,displasia esqueléticas,hipoplasia pulmonar,skeletal dysplasia,pulmonary hypoplasia


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