We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.

We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q21.1----qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van Creveld syndrome.

An inbred kindred with 15 cases of the autosomal recessive Ellis-van Creveld syndrome is reported. The ages of the 12 living affected varied between 3 and 82 years. The main characteristics include polydactyly of the hands and feet and several other skeletal anomalies, oral manifestations, and malformations of the heart in 50% of the living affected.

To cite: Yanamandra U, Sharma P, Ramamoorthy A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212209 DESCRIPTION A 19-year-old woman born to non-consanguineous parents presented with primary amenorrhoea. Examination revealed a 1.3 m tall patient with disproportionate dwarfism (arm-span/height—ratio: 0.78); she was polydactyl with hypoplastic/dystrophi...

Ellis-van Creveld (EVC) syndrome is a form of skeletal and chondroectodermal dysplasia, occurring with and without systemic involvement. Taurodontism of permanent and primary molars and upper posterior supernumerary teeth are rarely associated with this syndrome. A 5-year-old girl presented with early childhood caries and hypodontia. She had labiogingival adhesion, labiogingival frenulum hypert...

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available informatio...

Volume dependence of the total energy and vibrational properties of crystalline l,3,5-trinitro-l,3,5-triazine (RDX) are calculated using the density functional theory (DFT). For this molecular crystal, properties calculated with a generalized gradient approximation to the exchange-correlation energy differ drastically from experimental values. This discrepancy arises from the inadequacy in trea...