Orofaciodigital syndrome with cerebral dysgenesis.

Orofaciodigital syndromes (OFD) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a fetus presenting with some features of the OFDs but with additional global cerebral dysgenesis. Ultrasonography at 19 weeks of pregnancy disclosed hypoplasia of the cerebral hemispheres with a large intrahemispheric cyst, as well as dysmorphic facial features and brachy-syndactyly IV-V.

Tubulovillous adenoma of the vulva.

Background: We report the second case of enteric-type villous adenoma of the vulva. The differential diagnosis, histogenesis, and pathogenesis are discussed.

Case: A 66-year-old woman had a tumor resected from the posterior aspect of the vulva.

[Primary peritoneal tumors: report on a series of eight cases and review of the literature].

Primary peritoneal tumors are rare and yet not well-known malignancies. We report here the clinical cases of 8 patients who were referred to our institution with a primary peritoneal tumor, 4 serous carcinomas (PSC) and 4 malignant mesotheliomas (PMM). Diagnosis was available in all cases and reviewed by two pathologists.

Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.

We report on two new cases of syndromic lissencephaly in two consanguineous sibs, with skeletal abnormality, born to young, healthy, second cousin parents with healthy children. In Case 1, fetal ultrasound screening at 32 weeks of gestation showed microcephaly, skin infiltration and equinovarus feet. MRI disclosed cerebral agyria, hypoplastic cerebral mantle and posterior agenesis of the corpus callosum.