DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20161831

Systemic lupus erythematosus in pregnancy with rare anomaly of rhizomelic chondrodysplasia punctata in baby

Alakananda ., Deepti Gupta, Rekha Borkotoky

Abstract


Rhizomelic means shortening of the bones closest to the body’s trunk. Chondrodysplasia refers to malformation (the dysplasia part of the word) of the cartilage (the chondro part of the word). Punctata refers to an unusual stippling on the end of the bones that join the shoulders and elbows (the humerus) and the top of the leg and the hip (femur). On X-ray an infant’s bones look spotty at the ends. Here, we report a case of rhizomelic chondrodysplasia punctate (RCDP) in newborn of a known systemic lupus erythematosus (SLE) patient. Consent for publication of this rare case for academic benefit has been taken from the patient.


Keywords


RCDP, SLE, Autoimmune disease

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References


Nalan K, Gonca K, Erdal A, Orhan K. A Case of Rhizomelic Chondrodysplasia Punctata in Newborn. Case Reports in Medicine. 2014 (2014), Article ID 879679, 3 pages.

Systemic lupus erythematosus (SLE) © 2007 - 2015 UCB S.A., Belgium. All rights reserved.

Dimitrov B, Devriendt K, Maas NM, Vermeesch JR, Zahariev D, Avdjieva D, et al. Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23). Genet Couns. 2004;15(2):191-7.

Whittock NV, Izatt LX. Linked Dominant Chondrodysplasia Punctata. orphan net encyclopedia. July 2004.