Langer mesomelic dysplasia in early fetuses: two cases and a literature review.

In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Léri-Weill dyschondrosteosis, performing a literature review of the primary forms of mesomelic dysplasia. A proper identification of the type of mesomelic dysplasia is important for genetic and reproductive counseling, estimation of child growth and prevention and/or treatment of complications. A competent pathologist could provide important diagnostic information, orienting or confirming the echographic or genetic suspect, sometimes suggesting diagnostic hypothesis concerning parental unidentified congenital syndromes.

"Multicystic dysplastic kidney (Potter type II syndrome) and agenesis of corpus callosum (ACC) in two consecutive pregnancies: a possible teratogenic effect of electromagnetic exposure in utero".

Agenesis of the corpus callosum is found in about 5 per 1,000 births and it is due to maldevelopment or, secondary, to destructive lesions. Multicystic dysplastic kidneys is a consequence of either developmental failure of the mesonephric blastema to form nephrons or to early urinary obstruction due to urethral or ureteric atresia and can be found in about 1 per 1,000 live births. A case of fetal multicystic dysplastic kidney disease (Potter type II syndrome) and complete agenesis of the corpus callosum demonstrated by the presence of Probst bundles associated with colpocephaly occurring in the same mother in her two consecutive pregnancies is reported. Data regarding possible teratogenetic effect due to electromagnetic exposure in utero have also been investigated and raised suspicionus as a potential risk factor. In cases of suspected second trimester ultrasound diagnosis of agenesis of corpus callosum (ACC), the following clinical management should be recommended: fetal karyotype; a second level scan with differentiation between underlying conditions such as hydrocephalus and holoprosencephaly; antenatal MRI to enhance the diagnostic accuracy of possible associated neuronal migration (when possible); and direct demonstration of the presence of the Probst bundles to neurohistology.

Cerebro-fronto-facial syndrome (Dandy-Walker Variant and frontofacial dysmorphisms): report of the first case identified by increased nuchal translucency beyond 13(+6) weeks.

A 32-year-old gravida 2, para 1 woman, with a previous uneventful pregnancy, underwent first trimester ultrasound screening for Down syndrome at 13 weeks according to the Fetal Medicine Foundation guidelines (http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.pdf). The ultrasound showed increased nuchal translucency (NT) of 8.9 mm with an estimated risk of Down syndrome of 1:8. Fetal karyotype was normal 46,XX by chorionic villus sampling. The patient underwent weekly ultrasound and at 19 weeks of gestation, a dilatation of the 4th ventricle with partial agenesis of the cerebellar vermis and normal posterior fossa were observed by transvaginal transcerebellar section of the fetal head. This finding was consistent with a diagnosis of Dandy-Walker variant and the patient opted for termination of pregnancy after extensive counselling. Autoptic examination confirmed the prenatal ultrasonographic findings and revealed signs of an underlying cerebro-fronto-facial syndrome due to the presence of facial dysmorphisms consistent with horizontal eyelid, high nasal root, low set ears and a wide forehead. Increased NT is not only a common phenotypic expression of chromosomal abnormalities, but is also associated with a wide range of fetal defects and genetic syndromes. Careful ultrasonographic follow-up is mandatory in all cases of increased first trimester nuchal translucency with normal karyotype in order to identify associated anomalies.