Presentation
Previously noted to have fetal congenital anomalies in a peripheral facility.
Patient Data
Viable singleton intrauterine pregnancy in cephalic presentation; right occiput anterior position (ROA) with multiple fetal morphological anomalies including:
moderately large monoventricular anechoic fluid dilatation involving the anterior ventricular horns and the third ventricle (5.3 cm in diameter) suggesting semilobar holoprosencephaly
mega cisterna magna with anechoic fluid bulging and communicating with fetal occipital retrocerebella encysted and rounded fluid-filled structure suggesting occipital meningocele and/or with Blake's pouch cyst
absent midline cleavage at the cerebellum suggesting vermian dysgenesis
small sized, simple, anechoic, unilocular sub-centimeter choroid plexi cysts
symmetrical foreshortening of the fetal upper and lower limb's long bones (FL/AC = 0.13; FL/HC = 0.08) consistent with focomelic skeletal dysplasia accompanied with redundant extra skin folds
foreshortening of the fetal chest column with resultant protuberant fetal abdomen (chest/AC ratio = 0.53 {normal = 0.89+-0.06}; chest/HC ratio = 0.12 {normal = 0.80+-0.12}) suggesting thanatophoric dwarfism
polyhydramnios (maximal single pocket volume = 11.56 cm)
reversed atrial (a-wave) within the fetal ductus venosus
Case Discussion
A constellation of fetal morphological malformations in a singleton viable fetus at twenty nine weeks zero days by composite ultrasound biometrics. Symmetrical foreshortening of the fetal upper and lower extremity long bones with redundant extra skin folds accompanied with foreshortening of the chest column and with resultant abdominal protruberance noted, are some of the hallmark sonographic features in thanatophoric dwarfism1-4.