TY - JOUR
T1 - Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder
AU - Nayak, S. S.
AU - Adiga, P. K.
AU - Rai, L.
AU - Girisha, K. M.
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/84873397206
UR - https://www.scopus.com/inward/citedby.url?scp=84873397206&partnerID=8YFLogxK
M3 - Article
C2 - 23431749
AN - SCOPUS:84873397206
SN - 1015-8146
VL - 23
SP - 487
EP - 491
JO - Genetic counseling (Geneva, Switzerland)
JF - Genetic counseling (Geneva, Switzerland)
IS - 4
ER -