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

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

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

Authors

S S Nayak¹, P K Adiga, L Rai, K M Girisha

Affiliation

¹ Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

PMID: 23431749

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / etiology*
Abortion, Spontaneous
Adult
Carpal Bones / abnormalities
Carpal Bones / diagnostic imaging
Chondrodysplasia Punctata, Rhizomelic / diagnosis
Chondrodysplasia Punctata, Rhizomelic / etiology*
Female
Fetal Diseases / diagnosis
Fetal Diseases / etiology*
Fetus
Humans
Male
Micrognathism / diagnosis
Micrognathism / etiology
Mixed Connective Tissue Disease / complications*
Pregnancy
Pregnancy Complications*
Radiography
Severity of Illness Index
Tarsal Bones / abnormalities
Tarsal Bones / diagnostic imaging