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

S. S. Nayak, P. K. Adiga, L. Rai, K. M. Girisha

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)487-491
Number of pages5
JournalGenetic counseling (Geneva, Switzerland)
Volume23
Issue number4
Publication statusPublished - 2012

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Rhizomelic Chondrodysplasia Punctata
Nose
Connective Tissue
Micrognathism
Fetus
Mothers
Tarsal Bones
Carpal Bones
Aborted Fetus
Humerus
Lip
Tibia
Osteogenesis
Systemic Lupus Erythematosus
Femur
Autoimmune Diseases
Spine
Pregnancy

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

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Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. / Nayak, S. S.; Adiga, P. K.; Rai, L.; Girisha, K. M.

In: Genetic counseling (Geneva, Switzerland), Vol. 23, No. 4, 2012, p. 487-491.

Research output: Contribution to journalArticle

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