Aggressive angiomyxoma is a rare, slow-growing soft tissue tumor that usually arises in the pelvis and perineal regions of women in reproductive age, with a marked tendency to local recurrence. Because of its rarity, it is often initially misdiagnosed. Surgical resection is the main treatment modality of aggressive angiomyxoma. We describe a case of a vaginal aggressive angiomyxoma in a 47-year-old woman in which the diagnosis was only made after histological examination. The etiology, presentation, diagnosis and management of this rare tumor are outlined. Angiomyxoma of vulva and vagina refers to a rare disease. Pre-operative diagnosis is difficult due to rarity and absence of diagnostic features, but it should be considered in every mass in genital, perianal and pelvic region in a woman in the reproductive age. Thus, these cases should have complete radiological workup before excision, as pre-diagnosis can change the treatment modality and patient prognosis'.

SUMMARYPregnancy is a rare occurrence in patients suffering from spinal cord injury (SCI). Pregnancy in these patients presents unique challenges to obstetric care providers, who need to become familiar with the general principles of care in this setting. SCI alters the function of multiple organ systems and chronic medical conditions are common in this patient population. Certain medical complications such as urinary tract infections and autonomic hyper-reflexia, or autonomic dysreflexia, are expectable and can be managed successfully. A multidisciplinary team should care for delivery in these patients. The authors present a case of a pregnancy in a paraplegic woman whose lesion was at the level of T4. She received epidural analgesia and had a caesarian section. From this case, the authors aim to point out the specific concerns of the management of pregnancy and delivery in this setting emphasising the importance of a multidisciplinary team, specially obstetricians and anaesthetists. BACKGROUND

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.

Objective: To describe the natural history of fetuses with a nuchal translucency (NT) above 3.5 mm when crown-rump length measures between 45 and 84 mm. Methods: We performed a retrospective cohort study of fetuses with fi rst trimester NT above 3.5 mm between January 2013 and March 2017. Results: A total of 75 cases with NT above 3.5 mm in the fi rst trimester were identifi ed. 3 cases were excluded (lost to follow-up), so that 72 cases were included. There were additional fi rst trimester markers of aneuploidy in 16 cases and 5 cases of major structural abnormalities diagnosed in the fi rst trimester ultrasound. 2 cases declined invasive testing. The karyotype was abnormal in 30 cases (43%), including 17 cases of trisomy 21. There were 25 terminations of pregnancy (34.7%), 11 fetal deaths (15.3%) and 36 livebirths (50%). The 36 live-born infants were followed. In this group 3 cases of trisomy 21, 1 case of unilateral hypoplasia of orbicularis oris, 1 Noonan-like syndrome, 1 case of 8p23.1 duplication (benign variant) and 1 case of lower limb lymphedema were observed. Conclusion: The prognosis of fetal NT above 3.5 mm in the fi rst trimester is poor when associated with karyotype abnormalities or structural abnormalities but is substantially better if neither of these conditions is observed.

Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by pathogenic variants in the MAGEL2 gene. It is usually a postnatal diagnosis in infants with muscular hypotonia and feeding difficulties.There are no cases diagnosed antenatally. During pregnancy, the most common findings reported are polyhydramnios and decreased fetal movements, which are relatively common and unspecific. We present one case of fetal clubfoot and clinodactyly in a fetus postnatally diagnosed with SYS, as well as a brief review of the prenatal findings associated with this syndrome.