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Virtual poster abstracts deformity and hydrocephalus may require cephalocentesis and assisted delivery. A 30 years old, G2 P1, was referred to Fetal Medicine Unit at 22+6 weeks because of multiples fetal abnormalities on a routine anomaly scan. No significant medical, family and drug history. Ultrasound findings showed a cover-leaf shape, moderate bilateral ventriculomegaly, and holoprosencephaly. Cerebellum and corpus callosum absent with small occiput and encephalocele. Thoracic dystrophy, bell-shaped chest and short ribs. Cardiac views appear normal. Amniocentesis was performed and mutation in fibroblast growth factor receptor gene 3 (FGFR3 gene mutation) confirmed the diagnosis of thanataphoric dysplasia. Patient and partner were informed of the lethality of the condition and counselled throughout the whole pregnancy. She had a breech vaginal delivery at 37 weeks. To conclude, thanatophoric dysplasia is a rare lethal condition. Early diagnosis is essential for appropriate counselling and managment of pregnancy.
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