A newborn with very rare von Voss-Cherstvoy syndrome: a case report.

ABSTRACT:

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-Cherstvo

SUBMITTER: Sharma D 

PROVIDER: S-EPMC4959768 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature