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

Downloads

Download data is not yet available.
Abstract
73
PDF
68

Author Biography

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



Downloads

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

Issue

Vol. 32 No. 3 (2014)

Section

Case Reports

License

Submission of a manuscript for publication implies the transfer of the copyright from the author to the publisher upon acceptance. Accepted manuscripts become the permanent property of the Journal of Bangladesh College of Physicians and Surgeons and may not be reproduced by any means in whole or in part without the written consent of the publisher.

No part of the materials published in this journal may be reproduced, stored in a retrieval system or transmitted in any form or by any means electronic, mechanical, photocopying, recording or otherwise without the prior written permission of the publisher. Reprints of any article in the Journal will be available from the publisher.