Clinical case of Jeune syndrome
https://doi.org/10.20862/0042-4676-2015-0-1-40-42
Abstract
About the Authors
N. V. KosolapovaRussian Federation
Head X-ray cabinet
E. V. Pakhomova
Russian Federation
Deputy Chief Physician of Medical Work;
V. P. Gavrilyuk
Russian Federation
MD, PhD, DSc, Pediatric Surgeon;
D. V. Dobrokhodova
Russian Federation
Head of Department of Pathology and Neonatal Care for Premature Children;
M. S. Romashina
Russian Federation
Clinical Resident Physician
References
1. Artamonov R.G. Rare diseases in pediatrics. Moscow: GEOTAR-Media; 2007 (in Russian).
2. Vries de J., Yntema J.L., Die van C.E. et al. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur. J. Pediatr. 2010; 169 (1): 77–88.
3. Ozcay F., Derbent M., Demirhan B. et al. A family with Jeune syndrome. Pediatr. Nephrol. 2001; 16 (8): 623–6.
4. Lehman A.M., Langlois S., Yong S.L. et al. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am. J. Med. Gen. 2010; 152 (6): 1411–9.
5. McInerney-Leo A.M., Leo P.J., Gardiner B. et al. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am. J. Hum. Gen. 2013; 93 (3): 515–23.
6. Miller K.A., Ah-Cann C.J., Welfare M.F. et al. Cauli: a mouse strain with an IFT140 mutation that results in a skeletal ciliopathymodelling Jeune syndrome. PLoS Genetics. 2013; 9 (8): 1003746.
Review
For citations:
Kosolapova N.V., Pakhomova E.V., Gavrilyuk V.P., Dobrokhodova D.V., Romashina M.S. Clinical case of Jeune syndrome. Journal of radiology and nuclear medicine. 2015;(1):40-42. (In Russ.) https://doi.org/10.20862/0042-4676-2015-0-1-40-42