A newborn with very rare von Voss-Cherstvoy syndrome: a case report
Authors Sharma D, Gupta B, Shastri S, Sharma P
Received 18 March 2016
Accepted for publication 5 May 2016
Published 20 July 2016 Volume 2016:9 Pages 201—205
Checked for plagiarism Yes
Review by Single-blind
Peer reviewer comments 4
Editor who approved publication: Professor Ronald Prineas
Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Pradeep Sharma4
1Department of Pediatrics, Pt. Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, N.K.P. Salve Medical College, Nagpur, Maharashtra, 4Department of Medicine, Mahatma Gandhi Medical College and Research Institute, Jaipur, Rajasthan, India
Introduction: von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities.
Case presentation: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder. The neonate was suspected to have von Voss-Cherstvoy syndrome on the basis of clinical features, which was further confirmed by fibroblast analysis showing somatic mosaicism for del(13q).
Conclusion: von Voss-Cherstvoy syndrome is a very rare syndrome that can be suspected on the basis of typical clinical features and confirmed by fibroblast analysis showing somatic mosaicism for del(13q). This adds a second case of this chromosome anomaly described in this syndrome.
Keywords: von Voss-Cherstvoy syndrome, radial ray defects, occipital encephalocele, urogenital abnormalities, somatic mosaicism for del(13q)
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