title: A newborn with very rare von Voss-Cherstvoy syndrome: a case report.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  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.
authors: Department of Pediatrics, Pt. Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak.
authors: Deepak
authors: D
authors: Sharma
authors: Department of Pediatrics, Civil Hospital, Palwal, Haryana.
authors: Basudev
authors: B
authors: Gupta
authors: Department of Pathology, N.K.P. Salve Medical College, Nagpur, Maharashtra.
authors: Sweta
authors: S
authors: Shastri
authors: Department of Medicine, Mahatma Gandhi Medical College and Research Institute, Jaipur, Rajasthan, India.
authors: Pradeep
authors: P
authors: Sharma
keywords: occipital encephalocele; radial ray defects; somatic mosaicism for del(13q); urogenital abnormalities; von Voss-Cherstvoy syndrome