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Genet Couns. 2012;23(4):487-91.

Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder.

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Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.


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.

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