Rhizomelic Chondrodysplasia Punctata: A case Report and Brief Review of Literature

Vishnu Kumar Goyal, R Jora, P Sharma, S Sundarajan


We are reporting a 3½-month-old male child who presented to us with growth failure, but detailed evaluation revealed clinicoradiological picture compatible with rhizomelic chondrodysplasia punctata; a rare autosomal recessive peroxisomal disorder.


Epiphyseal calcifi cations, Growth failure, Rhizomelic chondrodysplasia punctate

Full Text:



Karabayır N, Keskindemirci G, Adal E, Korkmaz O. A case of rhizomelic chondrodysplasia punctata in newborn. Case Rep Med 2014;2014:879679.

Figueiredo SS, Araujo JSD, Kozan JEM, Santos NCL, Tanganeli V. Rhizomelic chondrodysplasia punctata: A case report and brief literature review. Radiol Bras 2007;40:69-72.

Pascolat G, Zindeluk JL, Abrão KC, Rodrigues FM, Guedes CI. Rhizomelic chondrodysplasia punctata - Case report. J Pediatr (Rio J) 2003;79:189-92.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis 2013;8:174.

Pryde PG, Bawle E, Brandt F, Romero R, Treadwell MC, Evans MI. Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi- Hünermann syndrome). Am J Med Genet 1993;47:426-31.

Roy A, De P, Chakraborty S. Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. Indian Pediatr 2013;50:605-7.

Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: A clinical diagnostic and radiological review. Clin Dysmorphol 2008;17:229-41.

Barth PG, Wanders RJ, Schutgens RB, Staalman CR. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: Clinico-biochemical delineation of a subtype and complementation studies. Am J Med Genet 1996;62:164-8.

Spranger JW, Opitz JM, Bidder U. Heterogeneity of chondrodysplasia punctata. Humangenetik 1971;11:190-212.

Wijburg MT, Wenniger-Prick LJ, Bosch AM, Visser G, Bams- Mengerink A. Bilateral cataract in childhood years: Always an indication for screening on a metabolic disorder. Ned Tijdschr Geneeskd 2008;152:632-6.

Braverman NE, Moser AB, Steinberg SJ. Rhizomelic chondrodysplasia punctata Type 1. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews. Seattle: University of Washington; 2001. http://www.ncbi.nlm.nih.gov/books/NBK1270/. [Last updated on 2006 Jul 18].

Poulos A, Sheffi eld L, Sharp P, Sherwood G, Johnson D, Beckman K, et al. Rhizomelic chondrodysplasia punctata: Clinical, pathologic, and biochemical fi ndings in two patients. J Pediatr 1988;113:685-90.

Bams-Mengerink AM, Majoie CB, Duran M, Wanders RJ, Van Hove J, Scheurer CD, et al. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 2006;66:798-803.

Huffnagel IC, Clur SA, Bams-Mengerink AM, Blom NA, Wanders RJ, Waterham HR, et al. Rhizomelic chondrodysplasia punctata and cardiac pathology. J Med Genet 2013;50:419-24.

Braverman NE, Moser AB. Functions of plasmalogen lipids in health and disease. Biochim Biophys Acta 2012;1822:1442-52.

Yalin CT, Bayrak IK, Danaci M, Incesu L. Case report: Rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn. Tani Girisim Radyol 2003;9:100-3.


  • There are currently no refbacks.

Copyright © 2014 International Journal of Pediatric Research and Practice. All rights reserved. Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.