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Short rib polydactyly syndrome type III
Question :
Raktima Chakrabarti, Manish Balde, Surender Kumar, Sanjay Wazir
Department of Neonatology , The Cradle, Apollo Gurgaon, Gurgaon, Haryana, India
A one day old male new-born presented with in-drawing of chest, bulged-out skin bereft lesion in left lower chest-wall, polysyndactyly in all for limbs. Chest x-ray showed the presence of hypoplastic ribs 5th – 10th on the left side and dextrocardia. On ultrasound, the bulged-out lesion seemed to be protruded spleen` bilateral polycystic-kidney was also evident. Echocardiography showed dextrocardia with ventricular septal defect. MRI abdomen corroborated USG findings. The chest lesion got cured by topical antibiotic ointment application.

What is the diagnosis_?
 
Answer :
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.

References:

1. 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
2. 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
3. Yang SS. The skeletal system. In: Wigglesworth SS, Singer DB {Eds}. Textbook of Fetal and Perinatal
Pathology. Boston. Blackwell Scientific Publications` 1991: 1192-1198
4. 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

E-published: January-March 2014 Vol 11 Issue 1 Art No. 2

DOI No. : 10.7199/ped.oncall.2014.2