A family is reported in which several members have the Cornelia de Lange syndrome and other members show facial dysmorphism and other features reminiscent of this syndrome. The segregation pattern is consistent with the view that the dysmorphic features (variable) are the manifestation of a single gene in heterozygous form. Chromosome abnormality was not found.

The Revista do Instituto de Medicina Tropical de São Paulo has the honor to present this special issue of the year 2015 that is entirely dedicated to celebrate the centennial anniversary of Prof. Carlos da Silva Lacaz, founder of the Instituto de Medicina Tropical. Simultaneously to the creation of the Institute, the Revista do Instituto de Medicina Tropical de São Paulo also began to operate i...

We report a case of cecal volvulus in an 11-year-old girl who had been diagnosed with Cornelia de Lange syndrome. She had undergone operative fundoplication several years earlier and was referred to our institute for treatment of intestinal obstruction. A severely dilated colon was detected on abdominal roentgenogram, and abdominal CT and colonic enema strongly suggested cecal volvulus. Emergen...

D Beltran-Valero de Bernabé, T Voit, C Longman, A Steinbrecher, V Straub, Y Yuva, R Herrmann, J Sperner, C Korenke, C Diesen, W B Dobyns, H G Brunner, H van Bokhoven, M Brockington, F Muntoni . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....

Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth...

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