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A newborn with very rare von Voss-Cherstvoy syndrome: a case report.
Int Med Case Rep J. 2016; 9:201-5.IM

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-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+Show Affiliations

Department of Pediatrics, Pt. Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak.Department of Pediatrics, Civil Hospital, Palwal, Haryana.Department of Pathology, N.K.P. Salve Medical College, Nagpur, Maharashtra.Department of Medicine, Mahatma Gandhi Medical College and Research Institute, Jaipur, Rajasthan, India.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

27499650

Citation

Sharma, Deepak, et al. "A Newborn With Very Rare Von Voss-Cherstvoy Syndrome: a Case Report." International Medical Case Reports Journal, vol. 9, 2016, pp. 201-5.
Sharma D, Gupta B, Shastri S, et al. A newborn with very rare von Voss-Cherstvoy syndrome: a case report. Int Med Case Rep J. 2016;9:201-5.
Sharma, D., Gupta, B., Shastri, S., & Sharma, P. (2016). A newborn with very rare von Voss-Cherstvoy syndrome: a case report. International Medical Case Reports Journal, 9, 201-5. https://doi.org/10.2147/IMCRJ.S108746
Sharma D, et al. A Newborn With Very Rare Von Voss-Cherstvoy Syndrome: a Case Report. Int Med Case Rep J. 2016;9:201-5. PubMed PMID: 27499650.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A newborn with very rare von Voss-Cherstvoy syndrome: a case report. AU - Sharma,Deepak, AU - Gupta,Basudev, AU - Shastri,Sweta, AU - Sharma,Pradeep, Y1 - 2016/07/20/ PY - 2016/8/9/entrez PY - 2016/8/9/pubmed PY - 2016/8/9/medline KW - occipital encephalocele KW - radial ray defects KW - somatic mosaicism for del(13q) KW - urogenital abnormalities KW - von Voss-Cherstvoy syndrome SP - 201 EP - 5 JF - International medical case reports journal JO - Int Med Case Rep J VL - 9 N2 - 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. SN - 1179-142X UR - https://www.unboundmedicine.com/medline/citation/27499650/A_newborn_with_very_rare_von_Voss_Cherstvoy_syndrome:_a_case_report_ L2 - https://dx.doi.org/10.2147/IMCRJ.S108746 DB - PRIME DP - Unbound Medicine ER -
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