Severe Rhizomelic Chondrodysplasia Punctata in a Fetus due to Maternal Mixed Connective Tissue Disorder

Nayak, SS and Adiga, PK and Rai, Lavanya and Girisha, KM (2012) Severe Rhizomelic Chondrodysplasia Punctata in a Fetus due to Maternal Mixed Connective Tissue Disorder. Genetic Counseling, 23 (4). pp. 487-491.

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Abstract

Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder: Maternal systemic lupus erythematosus and autoimmune diseases have been extremely rarely reported to cause rhizomelic chondrodysplasia punctata. We report on a fetus aborted spontaneously at 21 weeks of gestation due to complications of maternal mixed connective tissue disorder. The fetus had micrognathia, a depressed nasal bridge, flat nose, long philtrum, short columella and rhizomelia. Radiographic study showed stippling of carpal and tarsal bones, short humeri and coronal clefts in the vertebrae. Ossification centers were present at the lower end of the femora and upper end of the tibiae

Item Type: Article
Uncontrolled Keywords: Rhizomelic chondrodysplasia punctatea – Mixed connective tissue disorder – Autoimmune disease – Stippling - Antinuclear antibody
Subjects: Medicine > KMC Manipal > Obstetrics & Gynaecology
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 12 Jan 2013 09:37
Last Modified: 12 Jan 2013 09:37
URI: http://eprints.manipal.edu/id/eprint/77959

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