Jeune Syndrome
نویسندگان
چکیده
منابع مشابه
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.
Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy, an association that adds to the obs...
متن کاملAnesthetic Approach for a Patient with Jeune Syndrome
Jeune syndrome (JS) is an autosomal recessive disease also known as asphyxiating thoracic dystrophy. A narrow bell-shaped thoracic wall and short extremities are the most typical features of the syndrome. Prognosis in JS depends on the severity of the pulmonary hypoplasia caused by the chest wall deformity. Most patient deaths are due to respiratory problems at early ages. Herein, we report a c...
متن کاملHypertrophic cardiomyopathy with Jeune syndrome: The first reported case.
Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The c...
متن کاملA case of neonatal Jeune syndrome expanding the phenotype
KEY CLINICAL MESSAGE We report the case of a premature, very low birth weight, newborn with stigmata of Jeune syndrome, a rare skeletal dysplasia, and marked renal involvement (i.e. remarkable prenatal oligohydramnios, histologic nephronophthisis-like pattern, macroscopic renal cysts, and renal failure), expanding the phenotype consistent with the continuum of syndromic ciliopathies.
متن کاملEllis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.
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ژورنال
عنوان ژورنال: Medical Journal Armed Forces India
سال: 2006
ISSN: 0377-1237
DOI: 10.1016/s0377-1237(06)80028-6