Introduction: Cantrell's pentalogy is a rare malformation, which associates 5 cardinal malformations: supraumbilical hernia of the abdominal wall, defect of the anterior part of the diaphragm and diaphragmatic pericardium, abnormality of the lower part of the sternum, heart defects. Ultrasound is essential in antenatal diagnosis. We report a case of polymaformative syndrome, including Cantrell pentalogy, acrania and iniencephaly. Observations: Mrs. BS, 24 years old, housewife, resident in rural areas, 3rd pregnancy, two live children, no medical-surgical history or known fetal malformation, no notion of teratogenic drug intake. Coming for his first ultrasound, which, performed by two radiologists concluded to a polyformative syndrome associating cantrell pentalogy, acrânie and iniencephaly: by the presence of a defect of closure of the anterior thoraco-abdominal wall resulting in an evisceration of the intra-abdominal organs, a cardiac malformation, the absence of formation of the bones of the skull, and absence of cervico-occipital bone formation with neck shortening and hyper extension of the head. The pregnancy was estimated at 27 weeks, the couple was informed of the fate of the future baby and the pregnancy intervention was proposed. After their agreement the labor was triggered, after 8 hours, she expelled a live newborn male, polymalformed confirming the ultrasound diagnosis, weighing 1900grams and lived only thirty minutes after birth. Conclusion: The polymalformative syndrome associating cantrell pentalogy, acrania and iniencepahlia is exceptional. Ultrasound is essential in diagnosis. Termination of pregnancy is the rule.
Thanatophore dysplasia is a rare lethal bone dysplasia. It is caused bya genetic mutation. There are two subtypes which are very similar in their distinct radiological characteristics and genetic mutations. Early diagnosis is imperative and based on antenatal ultrasound data.We report a case of type I thanatophore dysplasia diagnosed at 32 weeks of amenorrhea and 14 days by a routine antenatal ultrasound in an 18-year-old woman, with no known family malformation history, at the commune II reference health center. of the district of Bamako. The objective of this work is to clarify the contribution of ultrasound in the diagnosis of thanatophore dysplasia.
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