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Clinical case of Jeune syndrome

https://doi.org/10.20862/0042-4676-2015-0-1-40-42

Abstract

The paper reports a clinical case of Jeune syndrome in a baby, in whom the diagnosis was established immediately after his birth. He was also diagnosed as having multiple  congenital malformations, such as Dandy–Walker anomaly, hexadactyly of the left hand, cleft palate, choroidal colobomas in both eyes, and atrial septal defect and he also had interstitial nephritis and hepatitis.

About the Authors

N. V. Kosolapova
Kursk Regional Children Hospital № 2 Committee of Health of Kursk Region, Ministry of Health of the RF
Russian Federation
Head X-ray cabinet


E. V. Pakhomova
Kursk Regional Children Hospital № 2 Committee of Health of Kursk Region, Ministry of Health of the RF
Russian Federation
Deputy Chief Physician of Medical Work;


V. P. Gavrilyuk
Kursk Regional Children Hospital № 2 Committee of Health of Kursk Region, Ministry of Health of the RF
Russian Federation
MD, PhD, DSc, Pediatric Surgeon;


D. V. Dobrokhodova
Kursk Regional Children Hospital № 2 Committee of Health of Kursk Region, Ministry of Health of the RF
Russian Federation
Head of Department of Pathology and Neonatal Care for Premature Children;


M. S. Romashina
Kursk Regional Children Hospital № 2 Committee of Health of Kursk Region, Ministry of Health of the RF
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

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ISSN 0042-4676 (Print)
ISSN 2619-0478 (Online)