Rhizomelic Chondrodysplasia Punctata (RCDP) in a Newborn

Authors

  • Biplob Kumar Raha Assistant Professor of Neonatology, Ad-din Medical College Hospital, Dhaka
  • ZSM Haque Professor of Neonatology, Ad-din Medical College Hospital, Dhaka
  • N Jahan Assistant Professor of Neonatology, Ad-din Medical College Hospital, Dhaka
  • M Begum Assistant Professor of Neonatology, Ad-din Medical College Hospital, Dhaka
  • M Hasan Associate Professor of Neonatology, Ad-din Medical College Hospital, Dhaka
  • AWS Rob Assistant Professor of Neonatology, Ad-din Medical College Hospital, Dhaka
  • T Farhana Indoor Medical Officer of Neonatology, Ad-din Medical College Hospital, Dhaka
  • S Yasmin Indoor Medical Officer of Neonatology, Ad-din Medical College Hospital, Dhaka
  • SKA Hasnat Indoor Medical Officer of Neonatology, Addin Medical College Hospital, Dhaka
  • Z Islam Indoor Medical Officer of Neonatology, Ad-din Medical College Hospital, Dhaka

DOI:

https://doi.org/10.3329/jbcps.v32i3.26058

Keywords:

Ichthyosis, Punctuate calcification, Rhizomalic shortening

Abstract

A female newborn baby presented with the features of Rhizomelic chondrodysplasia Punctata (RCDP) characterized by rhizomalic shortening with contracture of lower extremities, ichthyosis, microcephaly, dysmorphic facial features including a depressed nasal bridge, hypoplastic midface, full cheeks & low set ear, breathing difficulties and anthropometric measures below the expected indexes for her age. The patient also presented congenital heart disease, a less common manifestation of the syndrome. Radiological features include epiphyseal stippling & Journal of Bangladesh College of Physicians and Surgeons Vol. 32, No. 3, July 2014 multiple calcification in the epiphyseal cartilage, metaphyseal flaring and clefts in vertebral bodies. It is a rare autosomal recessively inherited skeletal dysplasia. The prognosis is bad and death usually occurs within the first year of age. We report a case of neonatal RCDP which was diagnosed based on the typical clinical and radiological features.

J Bangladesh Coll Phys Surg 2014; 32: 174-177

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Author Biography

Biplob Kumar Raha, Assistant Professor of Neonatology, Ad-din Medical College Hospital, Dhaka



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Published

2015-12-23

How to Cite

Raha, B. K., Haque, Z., Jahan, N., Begum, M., Hasan, M., Rob, A., Farhana, T., Yasmin, S., Hasnat, S., & Islam, Z. (2015). Rhizomelic Chondrodysplasia Punctata (RCDP) in a Newborn. Journal of Bangladesh College of Physicians and Surgeons, 32(3), 174–177. https://doi.org/10.3329/jbcps.v32i3.26058

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Section

Case Reports