D. Dal Soglio

A child with unresectable biliary rhabdomyosarcoma: 48-month disease-free survival after liver transplantation.

We describe here a two‐yr‐old boy with biliary RMS successfully treated by chemotherapy and LT. The child presented with obstructive jaundice at 20 months of age. A mildly vascularized, non‐calcified, partially cystic lesion was visualized in the left hepatic lobe. Solid infiltration of the common bile duct and of both left and right hepatic ducts was suspected. Liver biopsy suggested a botryoid‐type embryonal RMS originating from the biliary tract. After extrahepatic spread of the tumor was excluded, a biliary drain was applied and neoadjuvant chemotherapy was started. After the treatment, although reduced in volume, the mass was still unresectable without aggressive surgery and gross residual disease. LT with a reduced segment II/III graft was performed four months after diagnosis. The patient received six cycles of adjuvant chemotherapy, and he is alive and recurrence‐free 48 months post‐transplantation. A posteriori, the transplant might have possibly been avoided with an aggressive resection with biliary reconstruction. Nevertheless, although the risk of the transplant has to be balanced against the chemoresponsiveness of the tumor, the four‐yr disease‐free survival of this patient suggests that, when coupled with effective chemotherapy, transplantation might be considered a potential treatment for unresectable biliary RMS.

P24.03: Prenatal diagnosis of recto-uterine fistula: a case report

phenotypic female sex. Histological examination of the placenta confirmed a monochorionic, diamniotic twin placenta. Karyotyping was performed on different tissues (see table). Genetic analysis was performed in both twins to proof chimerism. Chimerism was verified by Microsatellite analysis in blood lymphocytes. We presented a rare case of chimerism after IVF/ICSI and assisted hatching. The prevalence of a discordant karyotype in monochorionic twins is low and might be elevated after reproductive treatment. Therefore, we recommend karyotyping in both fetuses of monochorionic twin pregnancies at risk for chromosomal anomalies.

P03.03: Early diagnosis of Greig cephalopolysyndactyly syndrome

A 24 year-old woman was referred for suspicion of craniosynostosis. She had no past medical history and the ultrasound performed during first trimester screen for trisomy revealed a slightly flattened forehead, which alerted the treating physician. In our center, fetal cardiac and morphological ultrasounds were done and revealed significant craniofacial dysmorphism with prominent temporal bones, large thumbs and upward displacement of the right hemidiaphragm. Amniocentesis was normal. Follow-up ultrasound at 26 weeks showed progression of the craniofacial deformity, polyhydramnios and macrosomia. Greig cephalopolysyndactyly syndrome (GCPS) was then suspected. The patient opted for termination of pregnancy. On macroscopic evaluation, the fetus was a male weighing 1510 g (normal for 28–29 weeks). Craniosynostosis was confirmed from the prominent forehead and absence of fontanelles. Hypertelorism, polysyndactyly, brachydactyly and bilateral palmar creases were also noted. GCPS consists of a triad of hypertelorism, macrocephaly and polysyndactyly. Its incidence is estimated to be 1-9/1,000,000. Other anomalies seen in GCPS include craniosynostosis, diaphragmatic hernia, mental retardation and agenesis of the corpus callosum. It is caused by mutations in GLI3 and is inherited in an autosomal dominant pattern. Careful observation of the forehead during first trimester screening could potentially allow early detection of Greig syndrome, especially in families at high risk.