Fibular aplasia‐tibial campomelia‐oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments.
We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis was made by two‐ and four‐dimensional ultrasound and confirmed at autopsy after pregnancy termination. A review of the literature is presented.
Encephalocele is a rare congenital form of neural tube defect characterized by a protrusion of the meninges and cerebral tissue through a skull defect. These defects are classified according to their location: frontal, parietal and occipital, the last one being the most common form of presentation. The prognosis is related to the anatomical site, the volume of the neural contents and the presence of coexisting abnormalities. Most pregnancies are terminated, since the prognosis is poor. We report a case of an isolated fetal frontal encephalocele diagnosed at 21 weeks of gestation.
Sclerosing stromal tumors (SSTs) are a rare type of benign tumors of the ovary, representing 6% of sex cord tumors subtype. We report a case of SSTs affecting a young female patient presenting with abdominal pain and a pelvic mass on imaging examination. The patient underwent laparoscopic right salpingo-oophorectomy, and the pathology report confirmed the diagnosis of SSTs. A review of the literature with the typical pathological and imaging features of SSTs as well their management is performed.
Silicone breast implants are commonly used, even for reconstruction after mastectomy in malignant disease. In this setting, the presence of suspicious lymphadenopathy should be investigated, because it could represent disease progression. A case of a woman with left breast cancer (more than 20 years ago) and prosthesic reconstruction is reported. She developed a second breast cancer on the opposite side. During follow up, a suspicious lymphadenopathy was seen in the computed tomography scan, but the final diagnosis corresponded to a siliconoma. Silicone granuloma is a difficult diagnosis in these cases, but must be considered.
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