Prenatal Ultrasonographic Diagnosis of Rhizomelic Chondrodysplasia punctata by Detection of Rhizomelic Shortening and Bilateral Cataracts

Abstract

Antenatal sonographic diagnosis of rhizomelic chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling. This is the only report of prenatal ultrasonographic diagnosis of bilateral cataracts in a fetus with rhizomelic chondrodysplasia punctata (type 1). Also, this is the first report of severe rhizomelic limb shortening, and bilateral cataracts prior to the recognization of epiphyseal stippling.

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata

“…There are only few reports of prenatal diagnosis of RCDP in the Medline literature (Başbuğ et al, 2005; Brookhyser et al, 1999; Duff et al, 1990 Sep; Erdogdu et al, 2016; Gendall et al, 1994; Hertzberg et al, 1999; Sastrowijoto et al, 1994). The pattern recognition is based on the combination of rhizomelic bone shortening and epiphyseal stippling.…”