* Universidad del Valle ** Centro Medico Imbanaco Diagnostico Prenatal, Cali, Colombia
This is a 21-year-old primigravida, referred to our unit at 27 weeks due to a discordance between the gestational age and the uterine measurement and poor fetal movements. An arthrogryposis or pterygium syndrome was suspected. In our evaluation the ultrasound findings were:
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severe growth restriction
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hypokinetic fetus
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joint contractures in hands
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clinodactyly
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macrocephaly without hydrocephaly
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single umbilical artery
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normal bladder
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Amniotic fluid index in the lower limit for gestational age
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placenta slightly hyperechogenic.
An aneuploidy was suspected. We recommend a cordocentesis to confirm the diagnosis and the karyotype was 69,XXX. The baby was stillborn at 39 weeks (1350g).
Note the joint contractures