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Short rib polydactyly syndrome type III
Raktima Chakrabarti, Manish Balde, Surender Kumar, Sanjay Wazir.
Department of Neonatology, The Cradle, Apollo Gurgaon, Gurgaon, Haryana, India.
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What is the diagnosis?
Short-rib-polydactyly-syndrome type III {SRPS3}, which is also called Verma-Naumoff syndrome. It is a very rare syndrome characterised by short ribs, various gastrointestinal, cranial structural abnormality, post-axial polydactyly, cystic renal disease, heart and laterality disorder, ambiguous genitalia. {1} Homozygosity or compound heterozygosity for missense or nonsense mutations in the cytoplasmic dynein 2 heavy chain 1 gene {DYNC2H1} are reported in SRPS3. {2} Differential diagnosis include Ellis-van Creveld syndrome, Acropectoral syndrome, Greig-cephalopolysyndactyly syndrome, Saldino-Noonan syndrome, Acrocallosal syndrome. The Verma-Naumoff type was first published in 1983 as a subtype of Type I, since most of its characteristics are the same as those of Type I. It differs from Type I as the bones of the extremities and the iliac bones show better ossification, and visceral organ anomalies occur less often. {3} Generally this syndrome is diagnosed by pre and post natal ultrasonography, radiography, post mortem examination and genetic analysis. {4} But there is no treatment or prevention available for this syndrome.
E-published: January-March 2014 Vol 11 Issue 1 Art No. 2 |
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Funding: None
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Conflict of Interest: None
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- al-Gazali LI, Sztriha L, Dawodu A, Varady E, Bakir M, Khdir A, Johansen J. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. J Med Genet 1999;36:461-466 [PubMed] [PMC free article]
- Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009; 84: 706-711 [CrossRef] [PubMed] [PMC free article]
- Yang SS. The skeletal system. In: Wigglesworth SS, Singer DB (Eds). Textbook of Fetal and Perinatal Pathology. Boston. Blackwell Scientific Publications; 1991: 1192-1198
- Taori KB, Sharbidre KG, Krishnan V, Kundargi N, Kulkarni BR, Satkar V, et al. Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. J Clin Ultrasound. 2009; 37: 406-409 [CrossRef] [PubMed]
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DOI: https://doi.org/10.7199/ped.oncall.2014.2 |
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Cite this article as:
Chakrabarti R, Balde M, Kumar S, Wazir S. Short rib polydactyly syndrome type III (Verma- Naumoff type). Pediatr Oncall J. 2014;11: 27. doi: 10.7199/ped.oncall.2014.2
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