Jeune Syndrome - a Case Report
Keywords:
Asphyxiating Thoracic Dystrophy, Continuous Positive Airway Pressure, C - reactive protein, Occipito-frontal Diameter, Total Leukocyte CountAbstract
Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short limbed dwarfism. More than half (70%) of affected babies die in their early childhood from pulmonary hypoplasia and respiratory distress due to small size of the thorax. Growth retardation and chronic renal failure may occur in patients who survive respiratory failure. Here in our institute a newborn baby was born with jeune syndrome, diagnosed clinically by short rib cage, presented with respiratory distress on day 1 of life. Baby was started on oxygen by positive pressure ventilation and eventually shifted to mechanical ventilation. Symptomatic treatment continued with iv fluids and iv antibiotics but the baby couldnot survive beyond 7 days of life.
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References
Hall T, Bush A, Fell J, Offiah A, Smith V, Abel R. Ciliopathy spectrum expanded? Jeune syndrome associat ed w it h for egu t dysm ot ilit y an d malrotation. PediatrPulmonol2009;44:198-201.
Mistry KA, Suthar PP, Bhesania SR, Patel A. An t e n a t a l d ia gn os is of Je u n e syn d r om e ( a s p h yxia t in g t h o r a cic d ys p la s ia ) w it h micromelia and facial dysmorphism on secondtrimester ultrasound. Pol J Radiol 2015;80:296-9.
Tobin JL, Beales PL. The non-motile ciliopathies. Genet Med 2009; 11:386-402.
International Working Group on Constitutional Dis e a s e s o f Bo n e ( 1 9 9 8 ) . In t e r n a t io n a l No m e n cla t u r e a n d Cla s s ifica t io n o f t h e Osteochondrodysplasias . Am J. Med. Genet.1997; 79: 376-82.
Jeune M, Beraud C, Carron R. Dystrophie Thoraciqueasphyxiante de caract'ere. Arch Fr Pediatr 1955; 12: 886.
Den Hollander NS, Robben SGF. Hoogeboom AJ.M. Early prenatal sonographic diagnosis and follow up of Jeune syndrome. Ultrasound Obstet. Gynecol 2001; 18: 378-83.
Ho N.C, Francomano CA, Van Allen M. Jeune (Asphyxiating Thoracic Dystrophy) and ShortRib Polydactyly TypeIII (Verma-Naumoff) are variants of the same disorder. Am. J. Med. Genet 2000; 90: 310-14.
Oberklaid F, Danks DM, Mayne V, Campbell P, Asp hyxiat in g t h or acic dysp lasia: clin ical, radiological and pathological information on 10 patients. Arch Dis Child 1977; 52: 758-65.
De Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EAM, Hamel BCJ. Jeune syndrome: description of 13 cases and a proposal for follow up protocol.Eur J Pediatr 2010; 169: 77-88.
Pirnar T, Neuhause EBD. Asphyxiating thoracic dystrophy of the newborn. Am J Roentgen 1966; 98:358-64.
