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Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.
Author(s) -
Hertzberg B S,
Kliewer M A,
Decker M,
Miller C R,
Bowie J D
Publication year - 1999
Publication title -
journal of ultrasound in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 91
eISSN - 1550-9613
pISSN - 0278-4297
DOI - 10.7863/jum.1999.18.10.715
Subject(s) - chondrodysplasia punctata , medicine , peroxisomal disorder , osteochondrodysplasia , anatomy , peroxisome , receptor
Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. Most fetuses with the disorder die in utero or shortly thereafter, and the few that survive suffer severe debility and profound mental retardation. Death ensues in the first decade of life. Relatively few reports discuss antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. We describe the prospective antenatal diagnosis of rhizomelic chondrodysplasia punctata in a fetus with no family history of the disorder, based on the sonographic findings of severe rhizomelic limb shortening in combination with premature ossification and stippling of multiple epiphyses. The ultrasonographic features and differential diagnosis of rhizomelic chondrodysplasia punctata are elaborated.