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- Title
Spondylocostal dysostosis associated with right‑sided polythelia, right‑sided rib deformity and meningocoele: Case report with review of literature.
- Authors
Rai, Narendra; Thakur, Neha; Khan, Naheed Zia; Dwivedi, Akhilesh Dutt
- Abstract
Spondylocostal dysostosis (SCD) is a rare anomaly of axial skeleton due to flawed embryological development. A newborn baby boy with right‑sided polythelia, meningocoele, fan‑like configuration of third and fourth rib, fused fifth and sixth rib and third thoracic hemivertebra was delivered to a second gravid mother by elective caesarean section. Baby was active, cried immediately after birth, had normal muscle tone and reflexes. He passed urine and meconium within 24 h of birth. Based on clinical examination and radiological picture, a diagnosis of SCD with meningocele with right‑sided polythelia was made. Our case is the first SCD with polythelia and meningocele in newborn. SCD with right‑sided polythelia and rib deformity with neural tube defect (NTD) may be due to a genetic defect with the culprit genes missing. Further genetic and embryological studies might find a link between right‑sided rib defects, polythelia and NTD.
- Subjects
CESAREAN section; GENETIC disorders; GENETIC mutation; NEURAL tube defects; RIB cage; NIPPLE (Anatomy); SPONDYLOTHORACIC dysostosis; CHILDREN
- Publication
Journal of Pediatric Neurosciences, 2015, Vol 10, Issue 4, p362
- ISSN
1817-1745
- Publication type
Case Study
- DOI
10.4103/1817-1745.174456